Home Drugs Absence epilepsy: symptoms and treatment of childhood and adolescent epilepsy. Temporal lobe epilepsy

Absence epilepsy: symptoms and treatment of childhood and adolescent epilepsy. Temporal lobe epilepsy

Absence epilepsy is a form of generalized idiopathic epilepsy. The disease most often occurs in children of preschool and school age. During an attack, the child’s consciousness turns off, but this is not accompanied by convulsions and does not affect the state of the baby’s central nervous system.

Childhood absence epilepsy (CAE) is a fairly common form of the disease, occurring in children under 18 years of age. Accounts for approximately 20% of cases of epilepsy in children. Most often, it first appears at the age of 3-8 years; girls are more predisposed to this pathology. In adults, the pathological process is rarely observed.

When performing an EEG, foci of epileptic activity are observed. Therefore, the disease is classified as a form of epilepsy, although it is accompanied by other symptoms. Parents should be attentive to their child in order to notice absence seizures in time. If treatment is not started, resistant forms of DAE may develop.

Causes

Most often, childhood absence epilepsy is associated with abnormal intrauterine development of the brain or damage to the nerve cells of the fetus. later pregnancy. Can lead to illness congenital diseases– hydrocephalus, microcephaly and others.

Another reason for the development of the disease is poor heredity. Therefore, if both parents suffer from any form of epilepsy, doctors do not recommend having children with them. In 90% of cases, the born baby will also be sick.

If the first manifestations of the disease appear in adolescence, the following factors may contribute to this:

Mental overstrain. Epilepsy often develops in children who study very well.
Increased physical activity. If a child has to do heavy work regularly, this can also cause instability of the central nervous system.
Frequent stressful situations. For example, if parents constantly quarrel or demand more from the child than he can. Stress can also be caused by constant travel.
Impaired metabolism.
Insufficient blood circulation to the brain. Due to hypoxia nerve cells may begin to die.
Previously suffered traumatic brain injuries. They lead to disruption of the integrity of blood vessels and nerve endings. Gradually, foci of epileptic activity appear at the site of these pathological changes.
Drug intoxication. All tablets for children should be given by adults. Otherwise, they may take an increased dosage of the medication.

Stress and mental strain are possible causes of absence epilepsy

All of the above factors can lead to instability of the mechanisms that regulate the ratio of inhibition and excitation processes in the cerebral cortex. As a result, convulsive readiness of neurons occurs, which leads to the appearance of foci of epileptic activity.

Species

Absence seizures can be simple or complex. With simple absence seizures, consciousness switches off briefly for 2-5 seconds, and there are no other symptoms. At the same time, the person may even continue to stand, but his gaze freezes.

Also, with absence epilepsy in children, complex absence seizures can be observed. They are accompanied by accompanying symptoms. They can occur with muscle relaxation, increased muscle tone, urinary incontinence and other symptoms.

In addition, typical and atypical absence epilepsy are distinguished separately.

Typical

Typical absence epilepsy in children is characterized by short seizures that begin suddenly and end quickly. The age of first manifestations varies from 9 months to 17 years, but is most often observed in the period of 0.9-4 years. When conducting proper therapy It is possible to achieve complete remission of the disease in 85% of cases.

Atypical

Atypical absence seizures have the characteristics of generalized seizures, but according to the mechanism of development they are focal. Accompanied by disturbances of consciousness, changes in the motor activity of patients, and lethargy. They begin gradually and end the same way, which distinguishes them from typical absence seizures.

Clinical manifestations

The disease debuts at 4-10 years, but its peak occurs at 3-8 years. Manifests itself in paroxysms with specific symptoms. During a simple seizure of childhood absence epilepsy, the following signs and symptoms may appear:

The attack may begin suddenly. During it, the child freezes and becomes motionless.
There is general inhibition - the baby does not respond to speech addressed to him.
Immediately after the attack, the child cannot remember what happened to him. Even if he answered the questions posed by adults, he forgets about it.

Freezing of a child is one of the symptoms of absence epilepsy

During an attack there are no convulsive movements. It seems as if the child was simply thinking about something. This phenomenon does not last long - from a few seconds to minutes. After the attack there is no weakness or drowsiness. Simple absence seizures occur in approximately 30% of patients.

But complex attacks of childhood absence epilepsy are much more common. In this case, additional symptoms are observed:

There is a tonic component, in which the child throws his head back and rolls his eyes.
An atonic component is often observed, manifested by impaired sensitivity in the hands, due to which the baby cannot hold objects.
Automatisms can also join. The following signs appear - smacking, licking lips, repeating sounds and words.
The so-called attention deficit disorder may occur.

Simple and complex absence seizures are typical. Atypical ones are less common. During them, the child’s consciousness is gradually and partially lost. This lasts quite a long time - up to several minutes. And after the attack, the child looks exhausted and weak.

In childhood absence epilepsy, paroxysms are repeated very often - up to several dozen times a day. In the first year, there are only 2-3 attacks per day, and gradually their frequency increases. Despite this, such a disease is considered benign, since there are no neurological changes and the child’s intelligence is not impaired.

Features of absence epilepsy by age

At different ages, childhood absence epilepsy can occur differently and has specific features.

In childhood

Childhood absence epilepsy is the most favorable form. It makes its debut at 6-7 years of age and appears more often in girls. Mostly typical absence seizures are observed (in 35% of cases - simple, in 43% - complex, and in 22% of cases they are combined). The attacks occur mainly in the first half of the day and are repeated very often - up to several dozen times a day.

In adolescence

Absence epilepsy that occurs in adolescence, called juvenile. Unlike DAE, it has some features. The disease begins at more late age– at 8-14 years old. In such patients, simple absence seizures predominate, occurring in 66% of cases.

With juvenile absence epilepsy, the frequency of attacks is lower - they are observed up to several times a day. In adolescence, the disease may appear due to changes in lifestyle, which can provoke various stressful situations. In addition, young men often imitate adults, adopting their habits - they begin to smoke and drink. This can cause alcohol intoxication, which leads to disorders in the cerebral cortex, provoking epilepsy.

Diagnostic methods

To diagnose the disease, you need to consult a neurologist. The pathology is accompanied by fairly specific symptoms, so there are usually no difficulties in making a diagnosis. With DAE, the doctor asks the parents for symptoms, and with juvenile absence epilepsy, the doctor asks the child directly.

During the examination, the doctor reviews the patient's hospital records to see if there were any factors that might have contributed to the development of epilepsy (such as head trauma). The doctor also conducts special tests to determine whether the child’s intelligence corresponds to his age.

EEG is one of the methods for diagnosing absence epilepsy

The obligatory method is electroencephalography (EEG) - it is performed in 100% of cases. But sometimes the procedure does not show any changes in a normal state, but during an attack it is possible to record the pathological activity of the cerebral cortex in 90% of cases. Sometimes, on the contrary, foci of epileptic activity are detected, but there are no symptoms of the disease.

Other studies (CT, MRI) are not mandatory. But the doctor may prescribe them to exclude symptomatic epilepsy caused by tumors, cysts and infectious lesions of the brain.

Treatment methods

Treatment for absence epilepsy is aimed at eliminating seizures or reducing their frequency and intensity. Basically, drug therapy is prescribed. One antiepileptic drug is prescribed. At first, reduced dosages are selected, but they are gradually increased until the required dose is reached. The use of several drugs at once does not make sense, since this slightly increases the effectiveness of therapy: adding one more drug - by 10%, adding two drugs - by 15%.

In addition, the drugs may begin to interact with each other. This can lead not only to reduced efficiency, but also to allergic reactions.

Succinimides are most often prescribed to children. Basic drugs (Carbamazepine) and new ones (Topiramate, Pregabalin and others) can also be used. Volproate is also effective for childhood absence epilepsy. They can also be prescribed if the type of epilepsy is not determined - they are suitable for all generalized forms.

The medications must be taken over a long period of time. Cancellation is recommended only after three years of remission. If infrequent seizures occur, it is best to wait 4 years of remission before stopping the medication.

Ketogenic diets

These are low carb diets, but with increased content fats and proteins. They represent the main dietary method of treating absence epilepsy in children. However, it is not recommended to include them in treatment if the disease is treated with valproic acid drugs. In addition, during therapy it is necessary to be regularly examined by a neurologist and nutritionist.

Neurosurgical methods

For absence epilepsy, neurosurgical methods are rarely used. The indication for surgery is a high probability that the disease will progress to a more severe severe form. Various surgical techniques may be used at the discretion of the treating physician.

Forecast

Absence epilepsy can resolve on its own with age. However, it is necessary to regularly see a specialist and take special medications to avoid various complications.

Juvenile absence epilepsy does not tend to self-heal. However, if you follow medical recommendations, you can achieve almost complete remission.

Prevention

To prevent the disease in children:

It is necessary to avoid stressful situations.
You need to love your child and yell at him less.
You can only give medications that your doctor has prescribed, observing the exact dosage.
You also need to ensure that the baby does not hit his head, and treat any infectious diseases in a timely manner.

Particular attention should be paid to the baby's diet. He should eat more fresh fruits and vegetables. The amount of sweets must be reduced, as excessive amounts of sugar can cause metabolic disorders.

Childhood epilepsy is a favorable form of the disease. Therefore, if such a diagnosis is made, there is no need to despair. Parental love and care will help the baby cope with the disease faster.

Treatment

Basic provisions
- The goal of treating epilepsy is to provide the patient with the most complete elimination or cessation of epileptic seizures while minimizing the side effects of therapy. This goal is achieved with pharmacotherapy in more than 60% of patients. However, many patients experience side effects and, in some cases, refractoriness to therapy.
- The basis of the treatment of epilepsy is anticonvulsant therapy with anticonvulsants - anticonvulsants that differ in their mechanism of action, and one drug can combine more than two mechanisms of action (for example: valproic acid, topiromate, zonisamide). There are several groups of anticonvulsants:
  - Reactivation blockers sodium channels: diphenin, phenytoin, carbamazepine, oxcarbazepine, zonisomide, lamotrigine.
  - GABA (gamma aminobutyric acid) receptor agonists: benzodiazepines (lorazepam, diazepam, clonazepam, clobazam), barbiturates (phenobarbital, primidone).
  - T-type calcium channel blockers: ethosuccimide, valproic acid.
  - GABA synthesis stimulators (glutamate decarboxylase stimulators): valproic acid, gabapentin, pregabalin.
  - GABA reuptake inhibitors: tiagabine.
  - Inhibitors of GABA degradation in the synaptic cleft (GABA-transaminase inhibitors): vigabatrin.
  - NMDA glutamate receptor blockers: felbamate.
  - AMDA glutamate receptor blockers: topiramate.
  - Drugs with an unknown mechanism of action: levitracetam.
  - Carbonic anhydrase inhibitors: acetazolamide, sulthiam, topiramate, zonisamide.
  - Drugs with a supposed neuroprotective effect, possibly slowing the course of epilepsy: levitiracetam, topiromate.
- In recent years, a number of new drugs have been developed. To the recently introduced clinical practice Anticonvulsants include: lamotrigine, tiagabine, vigabatrin, gabapentin, topiramate, oxcarbamazepine, felbamate, zonisamide, levetiracetam, pregbalin. In most cases, these drugs are used in adult patients as second-line or complementary therapy, with the exception of topiromate, lamotrigine and oxcarbamazepine, which are also used in monotherapy for epilepsy. There are also a number of experimental drugs that have not been introduced into clinical practice, such as: losigamon, remacemide, stiripentol, talampanel.
- The decision to prescribe anticonvulsant therapy after the 1st seizure is made individually, but in general this issue has not been completely resolved. With a spontaneous seizure, the probability of its recurrence is from 15 to 70%, and it is highest with partial seizures, in the presence of changes in the EEG, focal symptoms, focal changes on MRI or CT, with a positive family history, as well as in children and elderly patients. In these cases, especially when several factors are combined, anticonvulsant therapy is often immediately prescribed. In other cases of a single unprovoked seizure (in the absence of risk factors), we limit ourselves to eliminating factors that can provoke a seizure (alcohol, caffeine, sleep deprivation) and not prescribing anticonvulsants. This applies, for example, to the situation after the first tonic-clonic seizure with normal EEG, MRI and the absence of data for secondary generalization (absence of aura), in which the probability of a recurrent seizure is about 15% and pharmacotherapy may not be prescribed. If the patient has several risk factors, for example, the partial nature of the seizure, changes in the EEG and MRI, then the risk of recurrence may be 70-80% and treatment must be started. After the 2nd seizure, treatment is almost always prescribed. In some cases, you can refrain from drug treatment:
  - First isolated epileptic seizure.
  - Rare or mild epileptic seizures in relatively benign forms of epilepsy:
    - Short (up to several seconds) typical absence seizures without deep loss of consciousness.
    - Brief and limited myoclonus.
    - Brief focal or widespread myoclonic seizures during sleep that do not significantly interfere with lifestyle.
  - Previously, there were rare (1-2 per year) seizures, more than 6 months have passed since the last of which and the end of taking anticonvulsants, and if the EEG does not reveal epileptiform and focal pathological activity.
- An important principle in the treatment of epilepsy is treatment with one drug - monotherapy. Monotherapy reduces the likelihood of side effects and avoids drug interactions.
- The choice of anticonvulsant depends on the type of seizure and epileptic syndrome, as well as on the age group. Typically, the initial drug is selected from the drugs of choice or first-line drugs, taking into account side effects and contraindications.
  - The drug of choice for partial and secondary generalized seizures is carbamazepine. However, there are differences in the effectiveness of drugs for the treatment of partial seizures in different groups of patients:
    - In adult patients with newly diagnosed or untreated partial-onset seizures, first-line drugs for initial monotherapy are carbamazepine, phenytoin, or valproic acid. Carbamazepine and phenytoin are better tolerated by men than by women. According to The SANAD study (2007), lamotrigine is more effective than carbamazepine for partial seizures and can be used as an alternative to the latter.
    - In elderly patients with newly diagnosed or untreated partial seizures, first-line drugs for initial monotherapy are lamotrigine, gabapentin, or carbamazepine, with gabapentin having more side effects than lamotrigine and carbamazepine being less effective than other drugs and may be prescribed in selected cases. cases.
    - In children with newly diagnosed or untreated partial-onset seizures, oxcarbazepine is the first-line drug for initial monotherapy.
  - In patients with newly diagnosed or untreated primary generalized tonic-clonic seizures, valproic acid is the drug of choice, with lamotrigine and topiromate being the first-line drugs. Valproic acid is more effective than lamotrigine and better tolerated than topiromate. There are also differences in age groups:
    - In adult patients with newly diagnosed or untreated generalized tonic-clonic seizures, first-line drugs for initial monotherapy include valproic acid, lamotrigine, topiromate, and carbamazepine, oxcarbazepine, phenobarbital, or phenytoin.
    - In children with newly diagnosed or untreated generalized tonic-clonic seizures, first-line drugs for initial monotherapy are: valproic acid, carbamazepine, phenobarbital, phenytoin, topiromate.
  - In patients with newly diagnosed or untreated absence seizures, if absence seizures are the only type of seizure observed, most neurologists consider ethosuccimide the drug of choice. When absence seizures are combined with other types of seizures (generalized tonic-clonic, myoclonic), the drugs of choice are valproic acid, lamotrigine or topiromate.
  - In the case of myoclonic epilepsy, and in particular in juvenile myoclonic epilepsy (Jantz syndrome), the drugs of choice are valproic acid, lamotrigine and topiromate. Levetiracetam is used for combination therapy.
  - For tonic or atonic seizures, in particular in the case of Lennox-Gastaut syndrome, valproic acid, lamotrigine or topiromate is used, in as a last resort felbamate.
  - For unclassified seizures, valproic acid is the drug of choice.
- If the initial drug is ineffective, it is replaced with another first- or second-line drug, usually with a different mechanism of action.
- If treatment with the second drug is not effective enough, then they move on to combination therapy with two drugs with different mechanisms of action.
- If treatment with the first, second drug, or a combination of two drugs turned out to be ineffective, i.e. did not stop or significantly reduce the frequency of attacks, providing sufficient social adaptation patient, then they talk about epilepsy that is resistant (refractory, resistant) to drug therapy. At the same time a necessary condition refractoriness is to achieve adequate serum concentrations while monitoring the concentrations of all three drugs, and the inability to control seizures with anticonvulsants should be due to their lack of effectiveness and not due to the development of side effects. In the case of refractory epilepsy, it is possible to prescribe a ketogenic diet, electrical stimulation of the vagus nerve, and surgical treatment according to indications.
- In order to monitor therapy, in some cases it is necessary to monitor the concentration of anticonvulsant drug(s) in the blood serum. In most cases, there is no need for routine determination of drug concentrations due to the correlation between dose and clinical effect, as well as drug dose and toxicity. Monitoring the concentration of the drug in the blood serum may be necessary in the following cases:
  - To assess the regularity of taking the drug in prescribed doses, if there is a suspicion of insufficient effectiveness of the drug due to irregularity in taking it.
  - If the development of toxic effects of an antiepileptic drug is suspected at adequate therapeutic doses due to its interaction with other drugs, and as a result, a significant nonlinear (not corresponding to the dose) increase in the concentration of the anticonvulsant in the blood serum.
  - When using phenytoin as part of combination therapy for epilepsy, when there may be an inappropriate dose reduction or, conversely, an increase in the concentration of fetitoin or a second drug in the blood plasma. When prescribing phenytoin with phenobarbital or carbamazepine, both an increase and a decrease in its concentration is possible. Vigabatrin and amiodarone increase serum concentrations of phenytoin. Isoniazid, cimetidine, chloramphenicol, dicumarol, chloramphenicol, sulfonamides significantly increase phenytoin levels. In turn, phenytoin reduces the blood levels of corbamazepine, ethosuccimide, felbamate, primidone, tiagabine and phenobarbital.
- It must be taken into account that in elderly patients the metabolism of a number of antiepileptic drugs is reduced, and therefore the recommended therapeutic doses of drugs create a higher concentration in the blood of the elderly. The initial dose of an anticonvulsant in elderly patients should be 30-50% less than the recommended therapeutic dose. Careful titration of the drug is necessary.

In many cases of resistant epilepsy, when surgery could be an effective method of stopping or significantly reducing the frequency of attacks, neurologists do not refer patients for surgical treatment, or the patients themselves abstain from it. In addition, in Russia there are very few modern epilepsy surgery centers equipped with the necessary equipment and trained personnel.

The following patients are candidates for referral to neurosurgical treatment:

Patients with intractable epilepsy that interferes with their daily activities, school or work, family life, social activities. Epilepsy is said to be resistant (resistant, refractory) to drug therapy if treatment with the first, then the second drug, then a combination of two drugs turned out to be ineffective, i.e. did not stop or significantly reduce the frequency of attacks, ensuring sufficient social adaptation of the patient. In this case, a necessary condition for refractoriness is the achievement of adequate concentrations in the blood serum while monitoring the concentrations of all three drugs, and the inability to control seizures with anticonvulsants should be due to their insufficient effectiveness, and not associated with the development of side effects.
Young children with a poor prognosis for whom seizures impair learning and mental development. For example, with Lennox-Gastaut syndrome, West syndrome (West).

Types of operations performed for epilepsy and indications for them.

Cases in which surgical treatment is not performed:

In patients with a combination of several types of seizures emanating from different areas of the brain, with the exception of cases where one type of seizure significantly predominates over the others.
Patients with bilateral hippocampal atrophy (according to MRI) and significant memory impairment and unilateral or bilateral epilepsy.
Patients with benign types of idiopathic partial epilepsy, such as Rolandic epilepsy, Gastaut epilepsy, childhood and juvenile absence epilepsy, since in most cases spontaneous remission is observed with age.
In adult patients with diffuse (multilobar) microgyria, poor outcomes of surgical treatment are observed even with one focus of epilepsy.

As a result of surgical treatment, it is possible to achieve a complete cessation of attacks, a significant reduction in their frequency when medication is not required, and in some cases a decrease in the frequency of attacks, but when complete control can be achieved with the additional use of an anticonvulsant. Significant postoperative improvements are observed in approximately 80% of operated patients. Strict selection of patients for surgery plays a significant role in obtaining a positive result. For example, if the results of EEG video monitoring and MRI coincide, up to 90% of operated patients become seizure-free.

Preoperative selection of patients for surgery includes:

Assessing the adequacy and effectiveness of previous drug therapy.
Evaluation functional state lesion, which is based on EEG video monitoring, functional MRI and PET are less commonly used.
Assessment of the morphological state of the lesion, usually using MRI of the brain.
Assessment of neurosurgical prospects with a prognosis of possible post-surgical functional deficit, which can develop due to damage or removal together with the lesion of brain areas responsible for vital functions, such as speech, movement. This includes the Wada test, neuropsychological testing, and sometimes functional MRI or PET scan.
- The Wada test is carried out to identify the dominant hemisphere and, accordingly, the zones responsible for the localization of speech, memory, and motor functions. When performing the test, a catheter is placed endovascularly to a specific brain vessel, and amobarbital is injected through the catheter, which causes anesthesia in the corresponding areas of the brain. At this time, testing of speech, memory, and movement is carried out, and then, if necessary, the test is repeated on the other hemisphere of the brain.

Epilepsy, or the eternal triumph of epilepsy

The more characteristic the disease is, the greater the chance that it will be known since ancient times. And epilepsy, or “epileptic”, refers specifically to such diseases. There are probably few diseases that manifest themselves so suddenly, and for which a person is so powerless to provide any help.

Imagine that, after uttering a loud cry, a rich and respected senator goes into convulsions right during the meeting. Of course, such symptoms were reflected in chronicles and ancient medical treatises belonging to the era of antiquity.

Let us remember that such people suffered from epilepsy famous personalities, like Julius Caesar and Dostoevsky, Napoleon and Dante Alighieri, Peter I and Alfred Nobel, Stendhal and Alexander the Great. In other famous people, epilepsy did not manifest itself systematically, but appeared in the form of seizures at certain periods of life. Similar attacks occurred, for example, in Lenin and Byron.

Even with the most superficial acquaintance with famous people who have suffered seizures throughout their lives, we can conclude that epilepsy does not affect intelligence, and often, on the contrary, “settles” in people who are intellectually much more developed than those around them. In rare cases, on the contrary, epilepsy occurs along with mental retardation, for example, with Lennox-Gastaut syndrome.

What is epilepsy, where does it come from, how does it proceed and how is it treated? How dangerous is epilepsy, how is it complicated, and what is the life prognosis associated with this disease?

Quick page navigation

Epilepsy - what is it?

Epilepsy is a chronic polyetiological (depending on many causes) brain disease, the main manifestation of which is the occurrence of various seizures, possible change personality in the interictal period, as well as other manifestations.

The basis of the disease is a seizure, which can occur either as a large tonic-clonic seizure, with loss of consciousness (that same “epileptic” known to history), or in the form of a wide variety of sensory, motor, autonomic and mental paroxysms, which can often occur without loss of consciousness, and even unnoticed by others.

Therefore, in a number of cases, it can be quite difficult to suspect epilepsy.

What is a seizure and how often does it occur?

The cause of epilepsy in adults and children is regularly repeated, which is the “structural unit” of the diagnosis.

A seizure in epilepsy is a single episode in which a synchronous discharge of the cerebral cortex of neurons of excessive force occurs. The indicator of this discharge is changes in the patient’s behavior and perception.

There is evidence that over the course of a lifetime, every 10th person may develop a single seizure. If you go out into the street and start conducting a survey, you will find out that every hundredth person has a diagnosis of epilepsy, and over the course of a lifetime the chance of “having” this diagnosis is about 3%.

Causes of epilepsy in adults and children

IN different periods human lives exist and various reasons, most often leading to epilepsy:

Before the age of 3 years, childhood epilepsy most often occurs as a result of perinatal pathology, a consequence of birth trauma, the occurrence of vascular malformations located close to the cerebral cortex. Often the first attack is initiated by congenital metabolic disorders, infections of the central nervous system;
In childhood and adolescence, the consequences of severe traumatic brain injury and neuroinfection are added to the above reasons.

On the role of traumatic brain injury

It is known that an open penetrating gunshot wound leads to the development of epilepsy in 50% of cases. With a closed head injury (for example, with a road traffic injury), the risk of developing the disease is 10 times lower, and accounts for 5% of all cases.

It is important to know that if the injury causes loss of consciousness for longer than 24 hours, there is a depressed fracture of the calvarial bones, subdural or subarachnoid hemorrhage, the risk of developing epilepsy increases.

In the period from 20 years to 60 years of age, the occurrence of attacks is influenced by vascular diseases, as well as tumors;
In adults (elderly and senile), the cause of epilepsy is often metastatic brain tumors, vascular and metabolic disorders.

Among the most likely The causes of metabolic disorders leading to epilepsy include:

hyponatremia, hypocalcemia due to pathology of the parathyroid glands;
hypoglycemia, especially in type 1 insulin-dependent diabetes mellitus;
chronic hypoxia;
liver and kidney failure;
hereditary diseases that lead to disruption of the urea cycle;
congenital channelopathies (potassium, sodium, GABA, acetylcholine), with neuromuscular diseases.

Thus, the cause of severe generalized epilepsy in children may be sodium channelopathy, caused by a hereditary defect in the SCN gene, which encodes the synthesis of the protein of the somatic sodium channel subunit.

The cause of a seizure can be certain medications, as well as drugs (amphetamines, cocaine). But even such well-known drugs as lidocaine, isoniazid and regular penicillin, when reaching a toxic dose, can cause seizures.

Finally, seizures occur during withdrawal symptoms. This happens with an abrupt cessation of binge drinking and with the abolition of barbiturates and benzodiazepines.

Forms of epilepsy and clinical characteristics

There are many forms of epilepsy, their classification is based on the symptoms of the attack and the pattern of electrical activity of the cerebral cortex recorded on the EEG. First of all, there are:

Partial seizures;
Generalized seizures (with primary and secondary generalization).

Partial seizures are manifested by the involvement of a local part of the neurons of the brain in a synchronous discharge, so consciousness is usually preserved. There may be frontal, temporal, parietal and occipital attacks.

During a generalized seizure, neurons in the cortex of both hemispheres suddenly “flare up.” This is accompanied by a typical loss of consciousness and biphasic tonic-clonic seizures. It is this type of manifestation that is called “epileptic”.

It happens like this - an epileptic seizure begins as a partial one, then suddenly “expands”, involving all neurons, and then proceeds as a generalized one.

In this case, we talk about a secondary generalized form of the disease. Primary generalized seizures are the same “real” epilepsy that develops at a young age without any particular reason and is often hereditary.

Symptoms of partial seizures of epilepsy

To understand the manifestations of typical partial seizures of epilepsy, you can open an anatomy textbook and see how they are localized higher functions in the cerebral cortex. Then the course of partial, focal attacks will become clear:

In case of defeat frontal lobes Complex motor automatisms may occur, for example, imitation of riding a bicycle, rotation of the pelvis, the patient may make sounds, and sometimes a forced turn of the head occurs;
When the temporal cortex is damaged, a rich olfactory aura appears, taste sensations, sometimes the most unimaginable, for example, a combination of the aroma of cutlets with the smell of burnt rubber, “déjà vu” arises, or the feeling of what has already been experienced exactly, a sound aura appears, visual perception is distorted, automatisms or semi-voluntary stereotypical movements appear;
Parietal focal seizures are less common and present with dysphasia, speech arrest, nausea, abdominal discomfort and rich complex sensory phenomena;
Occipital partial seizures occur with simple visual phenomena, such as lightning, zigzags, colored balls, or symptoms of loss occur, such as limitation of visual fields.

The first signs of epilepsy during a generalized seizure

The first signs of generalized epilepsy can be noticed by the unusual behavior and the fact that the person “loses contact.” In the event that attacks occur without witnesses, the disease often proceeds secretly, since there is no memory of the incident.

Thus, the following types of epileptic seizures are distinguished:

Absence. The patient stops all purposeful motor activity and “freezes.” The gaze stops, but automatic movements may continue, such as writing that becomes a scribble or a straight line.

The absence seizure stops just as suddenly. The patient himself may give the impression of simply being “thoughtful in conversation.” The only thing is, after recovering from the attack, he will ask what the conversation was about.

Atypical and complex absence seizure. In this case, the symptoms are similar to absence seizure, but the attack is longer lasting. Motor phenomena occur: twitching of the eyelids, facial muscles, falling of the head or raised arms, sucking movements, rolling of the eyes upward.
Atonic attack. Muscle tone suddenly decreases sharply and the patient may fall while walking. But sometimes the loss of consciousness is so short that he has time to simply “nod off”, and then control over the muscles is restored.
Tonic seizure occurring with a general increase in muscle tone. The first signs of epilepsy may begin with “screaming.” Lasts a minute, rarely more.
Tonic-clonic seizure. It occurs with a successive tonic and clonic phase, autonomic disorders, urinary incontinence and classic post-attack sleep, which may not be necessary. In the tonic phase, the limbs stretch, a cry occurs, a fall, and loss of consciousness. Tongue bites. During the clonic phase, the arms and legs twitch.

It should be noted that all of the above variants of epileptic seizures can be combined, “layered” on top of each other, accompanied by motor and sensory, as well as autonomic disorders.

It is important to understand that attacks with loss of consciousness must be distinguished from fainting caused, for example, by a short period of asystole or cardiac arrest, the development of coma and other syncope of non-epileptic nature.

Treatment of epilepsy is carried out by a neurologist - epileptologist. Often there is a “smaller” division of the specialty, for example, a pediatric neurologist-epileptologist. This is due to the fact that children may experience specific forms and symptoms of epilepsy.

Epilepsy in children, features

Parents should not be afraid to consult an epileptologist if they suspect their child has seizure activity. Often seizures are not related to epilepsy. Thus, often “epilepsy in children under one year of age” is nothing more than a manifestation of febrile seizures, which are a reaction to high temperature.

These seizures can occur from infancy until the age of 5 years. If a single attack of such convulsions develops against a background of high fever, it is not capable of causing harm to the brain.

However, parents should consult an epileptologist if they have frequent seizures. In doing so, they must provide the doctor with the following information:

At what age did you have your first attack?
what was the onset (gradual or sudden);
how long did the attack last?
how it proceeded (movements, position of the head, eyes, complexion, tense or relaxed muscles);
conditions of occurrence (fever, illness, injury, overheating under the sun, in complete health);
the baby’s behavior before and after the attack (sleep, irritability, tearfulness);
what kind of help was provided to the baby.

It must be remembered that only an epileptologist can give an opinion after a comprehensive examination and stimulation electroencephalography.

Children may have some special variants of the disease, for example, benign childhood epilepsy with central temporal peaks (according to EEG), childhood absence epilepsy. These options can result in complete spontaneous remission, or recovery.

In other cases, the child may develop Lennox-Gastaut syndrome, which, on the contrary, is accompanied by mental retardation, a rather severe course and resistance to therapy.

Diagnosis of epilepsy - EEG and MRI

In diagnosing epilepsy, one cannot do without EEG, that is, without electroencephalography. EEG is the only reliable method showing spontaneous “burst” activity of cortical neurons, and in doubtful cases, with an unclear clinical picture, EEG is a diagnostic confirmatory examination.

However, it must be remembered that in the interictal period the patient may have a normal encephalogram. If an EEG is done once, the diagnosis is confirmed only in 30-70% of all cases. If you increase the number of EEGs up to 4 times, the diagnostic accuracy increases to 92%. Long-term monitoring, including EEG recordings during sleep, further enhances the detection of seizure activity.

An important role is played by the provocation of convulsive discharges that occur during hyperoxia and hypocapnia (during a test with hyperventilation), during photostimulation, as well as during sleep deprivation.

It is known that if the patient completely refuses to sleep the night before the examination, this can cause the manifestation of latent convulsive activity.

If there are partial seizures, then an MRI or CT scan of the brain is necessary to exclude focal lesions.

Epilepsy treatment, drugs and surgery

Is it necessary to treat epilepsy in adults in any case, or can it be done without anticonvulsants?
When should you start treatment for epilepsy and when should you stop treatment?
Which patients are at greatest risk for seizure recurrence after discontinuation of therapy?

All these questions are extremely important. Let's try to answer them briefly.

When to start treatment?

It is known that even if a patient has developed a single major tonic-clonic seizure, there is a chance that it will never happen again, and it is up to 70%. The patient should be examined after the first or only attack, but treatment may not be prescribed.

Absence seizures, as a rule, are repeated and, on the contrary, they need to be treated despite their “ease” of occurrence, compared to a major seizure.

When is there a high risk of seizure recurrence?

In the following patients, the doctor has the right to expect a recurrent attack, and you need to be prepared for it by prescribing treatment for epilepsy immediately:

with focal neurological symptoms;
with mental retardation in children, which, coupled with seizures, requires initiation of treatment for epilepsy;
in the presence of epileptic changes on the EEG during interictal time;

When should you stop treatment?

As soon as the doctor believes that epileptic seizures will not occur after stopping treatment. Often this confidence is due to the fact that in some cases remissions occur spontaneously when the patient “goes beyond the age” of the seizure. This often occurs in the absence form of epilepsy, and in the benign childhood form.

Which patients are at high risk for seizure recurrence after discontinuation of therapy?

The doctor needs to carefully weigh the pros and cons before stopping the drug if:

It took a long time for the patient to select the dose and type of medication, but he “didn’t go right away”;
While the seizures were brought under control, they were frequent (every few days);
the patient has persistent neurological disorders (paralysis, paresis);
there is mental retardation. This “disinhibits” the cortex;
in the event that there are constant convulsive changes in the encephalogram.

What drugs are used in modern treatment epilepsy?

Currently, the basis of treatment for epilepsy is monotherapy, that is, the prescription of one drug, and the choice of drug is determined by the type of seizure, as well as the number and severity of side effects. Monotherapy improves patient adherence to treatment and minimizes omissions.

In total, about 20 different treatments are currently used to treat epilepsy. medicines, which are available in many dosages and varieties. Anticonvulsants are also called anticonvulsants.

Thus, carbamazepine and lamotrigine are used for partial seizures, phenytoin is also used for tonic-clonic seizures, and valproate and ethosuximide are prescribed for absence seizures.

In addition to these drugs, there are second-line drugs and additional drugs. For example, second-line drugs for the treatment of major tonic-clonic seizures are topiramate and primidone, and additional drugs are levitracetam.

But we will not delve into the list of drugs: they are all prescription drugs and are selected by a doctor. Let's just say that anticonvulsants are also used in the treatment of neuropathic pain, for example, with postherpetic neuralgia and trigeminal neuralgia.

About surgical methods of treating epilepsy

In order for a patient to be sent for surgical treatment, he must have seizures that are not controlled by medications. It should also be clear that stopping these seizures will greatly improve the patient's life. Thus, it makes no sense to operate on bedridden and deeply disabled patients, since their quality of life will not improve from the operation.

The next stage is a clear idea of the source of convulsive impulses, that is, a clear and specific localization of the focus. Finally, surgeons must understand that the risk from a failed operation should not exceed the harm currently experienced due to seizures.

Only with a simultaneous combination of all conditions is surgical treatment performed. The main options for surgery include:

Focal resection of cortical zones – for partial seizures;
Disconnection of pathological impulses (callosotomy, or intersection of the corpus callosum). Indicated for severe, generalized seizures;
Implantation of a special stimulator that affects vagus nerve. Is a new treatment method.

As a rule, improvement after surgery is achieved in 2/3 of all cases, which leads to an improvement in the quality of life.

Forecast

With timely diagnosis and treatment, true or genuine epilepsy can last for a long time. If you control the frequency of attacks and achieve remission, this leads to the patient’s social adaptation.

If we are talking, for example, about post-traumatic epilepsy, with frequent and resistant attacks, then this unfavorable course can lead to a change in the patient’s character, the development of epileptoid psychopathy, as well as persistent other personality changes.

Therefore, one of the conditions for controlling the disease is its early detection and the most accurate diagnosis.

Generalized epilepsy, also known as primary generalized epilepsy or idiopathic epilepsy, is a form of epilepsy that is characterized by generalized seizures without an obvious etiology.

Generalized epilepsy, in contrast to partial epileptic seizures, is a type of seizure that reduces the patient’s consciousness and distorts electrical activity the whole or most of his brain.

Generalized epilepsy causes epileptic activity in both hemispheres of the brain, which can be recorded on electroencephalography (EEG).

Generalized epilepsy is a primary condition, as opposed to secondary epilepsy, which occurs as a symptom of a disease.

Types of attacks

Seizures of generalized epilepsy can manifest as absence seizures, myoclonic seizures, clonic seizures, tonic-clonic seizures, or atonic seizures in various combinations.

Seizures of generalized epilepsy can occur in various convulsive syndromes, including myoclonic epilepsy, familial neonatal seizures, absence epilepsy, infantile spasms, childhood myoclonic epilepsy and Lennox-Gastaut syndrome.

Forms of the disease

During attacks of generalized epilepsy, a person usually loses consciousness. But sometimes an attack can be so short that the patient does not notice it. During an attack, the person's body muscles may tense and/or twitch, and the person may fall unexpectedly.

The different types of generalized seizures include:

tonic-clonic seizures;
tonic seizures;
atonic seizures;
myoclonic seizures;
absence seizures.

Symptoms

Tonic-clonic seizures

There are two phases in tonic-clonic seizures – tonic (tonic) seizures and clonic.

During the tonic phase, a person loses consciousness, his body becomes uncontrollable and he falls.

During the clonic phase, the patient's limbs begin to twitch, bladder or bowel control may be lost, the tongue or inner cheek may be bitten, and teeth may be clenched.

The person may stop breathing or have difficulty breathing, and the person may develop blue circles around the mouth.

After a tonic-clonic seizure, the patient may experience headaches, fatigue, and feel very unwell. May come deep sleep, but after waking up, the headache and pain in the muscles of the body persist for some time.

The symptoms of a tonic seizure appear as tonic-clonic seizures. However, in a tonic seizure, it does not reach the muscle twitching stage (clonic stage).

During atonic seizures, a person loses the tone of all muscles and falls. These seizures are very short and usually allow the person to get up immediately. However, physical injury can also occur during these seizures.

Myoclonic seizures

Myoclonic seizures typically involve isolated or brief muscle jerks that can affect some or all parts of the body.

Seizures are usually very short (lasting a fraction of a second) to affect a person's consciousness. Muscle twitching can range from mild to very strong.

Absence seizures

Absence seizures in generalized epilepsy usually develop in children and adolescents. The two most common types of absence seizures are typical and atypical absences.

Typical absence seizures

In a typical absence seizure, the person's unconscious state usually lasts for just a few seconds. He seems to be lost in thought, or "switched off" for a second. Minor twitching of the body or limbs may occur. With prolonged absence seizures, a person may perform brief, repetitive actions. During an attack, a person does not know what is happening around him and cannot be brought out of this state. Some people experience up to hundreds of absence seizures per day.

Atypical absence seizures

This type of absence seizure is similar to typical absence seizures, but they last longer.

In atypical absence seizures, there is less loss of consciousness and less change in muscle tone.

The person can move around, but becomes clumsy and needs help.

During atypical absence seizure, a person may be unable to respond to stimuli.

Diagnostics

Generalized tonic-clonic seizures occur in many various types epilepsy, and it is quite difficult to establish an accurate diagnosis of generalized epilepsy based solely on the descriptive or even the observational part of it.

The first difference is determining whether there is actually an event that triggered the attack.

If the inciting stimulus cannot be identified, the second step to determine whether underlying idiopathic generalized epilepsy is present is to conduct appropriate investigations.

The result can be achieved by carefully monitoring the patient's medical history and using EEG and/or MRI studies, with periodic Video-EEG monitoring to fully characterize the epileptic syndrome.

If, as a result of research, it is established that existing signs reflect idiopathic generalized epilepsy, will require additional research, based on careful assessment of seizure types, age of onset, family history, response to therapy, and supporting data.

The disease can be analyzed for the absence of myoclonic, tonic-clonic, atonic, tonic and clonic seizures.

The patient may experience one type of seizure or a combination of several, depending on the underlying syndrome of the disease. As a result, the picture of the disease can be very different, and a full cycle of studies is required to make the correct diagnosis.

Treatment and therapy

There are seven main antiepileptic drugs recommended for the treatment of primary generalized epilepsy:

Valproate is a relatively old drug that shows high efficiency, and which is often considered a first-line treatment drug. However, its association with fetal malformations when taken during pregnancy limits its use in young women.

All antiepileptics medicines, including those listed above, can be used in cases of partial attacks of generalized epilepsy.

Limiting certain foods in the diet can significantly reduce the incidence of epileptic seizures.

Preschool children are characterized by the onset of idiopathic partial epilepsy with frontal paroxysms, benign occipital epilepsy with an early onset (Panagiotopoulos syndrome), as well as Landau-Kleffner syndrome.

Idiopathic partial epilepsy with frontal paroxysms

The disease was first described by A. Beaumanoir and A. Nahory (1983). The age of patients at the onset of epilepsy is 2-8 years. This type of epilepsy accounts for about 11% of cases of all idiopathic focal epilepsies. The disease manifests itself in the form of several types of seizures: daytime (complex partial, motor automatisms, sometimes absence-like) and nighttime (hemifacial motor seizures, versive, sometimes with “post-crisis” deficit and/or secondary generalized seizures). The frequency of attacks varies from 1 episode per month to 1 attack per few weeks (the duration of the active period of the disease ranges from 1 year to 6 years). EEG data are quite heterogeneous and do not have a single specific pattern (in some patients, EEG changes are comparable to those in benign childhood epilepsy with centrotemporal peaks; others have only focal slow activity; intermittent frontal discharges are recorded in the ictal period). The prognosis of the disease is quite favorable (spontaneous remission). A transient decrease in cognitive functions (short-term memory, operational functions, etc.) is observed during the active period of the disease; then they gradually recover.

Benign occipital epilepsy with early onset (Panagiotopoulos syndrome)

One of the benign occipital epilepsies of childhood. The disease debuts between the ages of 1 and 14 years (peak incidence at 4-5 years of age); occurs approximately 2 times more often than the Gastaut variant. Autonomous nocturnal attacks are characteristic; Due to autonomic symptoms and nausea, seizures are poorly recognized. On early stages diseases are marked by deviation of the eyes and behavioral disorders(in 50% of cases, attacks can become convulsive in nature). The duration of attacks is 5-10 minutes; in 35-50% of patients they progress to autonomic focal status epilepticus (sometimes with secondary generalization). EEG records peaks or paroxysmal discharges. Two thirds of patients have at least one EEG study with signs of occipital paroxysms (most often occipital peaks); the remaining third of patients have only extra-occipital peaks or short generalized discharges. In approximately 33% of cases in children with Panayiotopoulos syndrome, multifocal peaks in two or more cerebral areas are recorded on the EEG (single peak foci are considered rare). The prognosis for Panayiotopoulos syndrome in terms of long-term remission and cognitive functions is relatively favorable. Treatment of early-onset benign occipital epilepsy is primarily aimed at controlling seizures in the acute phase (diazepam).

Landau-Kleffner syndrome (acquired epileptic aphasia)

The overwhelming number of cases of the disease occur at the age of 4-5 years, although the disease (acquired aphasia and epileptiform discharges in the temporal/parietal areas of the brain) can debut earlier - in the second or third year of life. The cause of this relatively rare condition is unknown. Landau-Kleffner syndrome is characterized by loss of speech skills (impressive and/or expressive aphasia). These speech disorders, as well as auditory agnosia, appear in children who have not previously had deviations in psychomotor and speech development. Concomitant epileptic seizures (focal or generalized tonic-clonic seizures, atypical absences, partial complex, rarely myoclonic) are recorded in 70% of patients. Some children have behavioral disorders. Otherwise, the patients’ neurological status usually has no significant impairments. A specific EEG pattern is not typical for Landau-Kleffner syndrome; epileptiform discharges are recorded in the form of repeated peaks, sharp waves and peak-wave activity in the temporal and parieto-occipital regions of the brain. Epileptiform changes in sleep state are intensified or observed exclusively during sleep. Although the prognosis of Landau-Kleffner syndrome is relatively favorable, the onset of the disease before the age of 2 years is always associated with an unfavorable outcome in acquiring and/or restoring speech communication skills.

Epilepsy in school-age children and adolescents

Upon reaching school age, children and adolescents are at risk of exposure to a whole group of age-dependent epilepsies, among which the most relevant are childhood absence, benign with centrotemporal peaks, benign occipital (Gastaut variant), juvenile absence, juvenile myoclonic (Jantz syndrome) and a number of other forms diseases.

Pediatric absence epilepsy (pycnolepsy)

The peak of onset of the disease occurs in early school age (about 7 years), although childhood absence epilepsy can debut from 2 to 12 years. It rarely debuts before the age of 3. Refers to idiopathic forms of the disease; all cases are considered genetically determined (autosomal dominant inheritance with incomplete penetrance). Childhood absence epilepsy is characterized by frequent repeated absence attacks (up to several hundred per day). In this case, absence seizures are the only or leading type of epileptic seizures; the likelihood of generalized tonic-clonic seizures is significantly lower than with juvenile absence epilepsy. Diagnosis of childhood absence epilepsy is carried out based on clinical manifestations and EEG data (a typical EEG pattern is bursts of generalized high-amplitude peak-wave activity with a frequency of 3 per 1 sec, suddenly appearing and gradually stopping). The prognosis for childhood absence epilepsy is relatively favorable.

Benign epilepsy of childhood with centrotemporal peaks (rolandic epilepsy)

Described by P. Nayrac and M. Beaussart (1958). In the age group 0-15 years, it occurs with a frequency of 5-21 per 100 thousand (8-23% of all cases of epilepsy), being the most common form of idiopathic epilepsy in children. The age of children at the time of the debut of rolandic epilepsy varies from 3 to 14 years (peak - 5-8 years). Cases of the disease in patients under 2 years of age are extremely rare. The disease manifests itself in the form of nocturnal tonic-clonic seizures with a partial (focal) onset, as well as daytime simple partial ones (emanating from the lower cortical regions - the region of the central Rolandic sulcus). The frequency of attacks is usually low. Rolandic epilepsy is characterized by a specific somatosensory aura (pathological sensations in the buccal-oral area), as well as hypersalivation, speech arrest, tonic-clonic or tonic convulsions of the facial muscles. The patient does not lose consciousness during the attack. EEG data is characterized by the presence of peak-wave complexes localized in the central temporal regions. In the interictal period, patients' EEG records specific complexes in the form of high-amplitude 2-phase peaks accompanied by a slow wave. Rolandic peaks are localized in one or both hemispheres (isolated or in groups: in the middle temporal - T 3, T 4, or central - C 3, C 4 areas). By the time the disease debuts, the psychomotor development of children is normal. Subsequently, the disease is characterized practically complete absence neurological and intellectual deficit. Many patients go into remission during adolescence; A small proportion of children have impairments in cognitive functions (verbal memory), as well as various speech disorders and decreased academic performance (at school).

Benign occipital epilepsy with late onset (Gastaut variant)

Focal form of idiopathic epilepsy of childhood (Gastaut syndrome) with a later onset than Panayiotopoulos syndrome. The disease debuts between the ages of 3 and 15 years, but peaks at approximately 8 years of age. Characterized by short-duration attacks with visual disturbances(simple and complex visual hallucinations), complete/partial loss of vision and illusions, deviation of the eyes, followed by clonic convulsions involving one side of the body. Up to 50% of patients experience migraine or migraine-like cephalgia at the end of the attack. EEG data resemble those in Panayiotopoulos syndrome: in the interictal period, normal main activity of the background recording is recorded in combination with epileptiform unilateral or bilateral discharges in the occipital leads in the form of peak-wave complexes (high-amplitude biphasic peaks with a main negative phase followed by a short positive phase) in combination with negative slow-wave activity. When the patient opens his eyes, epileptiform activity disappears, but resumes again 1-20 seconds after closing the eyes. The prognosis for benign occipital epilepsy with late onset (Gastaut variant) is relatively favorable, but, due to the possible pharmacoresistance of the disease, it is ambiguous.

Juvenile (youthful) absence epilepsy

The juvenile variant of absence epilepsy belongs to the idiopathic generalized forms of the disease. Unlike childhood absence epilepsy, the disease usually debuts at puberty, pre- or post-puberty (9-21 years, usually 12-13 years). The disease manifests itself as typical absence seizures, myoclonus, or generalized tonic-clonic seizures. The likelihood of a debut in the form of generalized tonic-clonic seizures in juvenile absence epilepsy is slightly higher (41% of cases) than in childhood absence epilepsy. The EEG pattern characteristic of this type of epilepsy has the form of peak-wave activity with a frequency of 3 Hz - symmetrical and bilaterally synchronized. Polypeak-wave activity, which occurs in some patients, should be alarming in terms of transformation of the disease into juvenile myoclonus epilepsy. The prognosis is relatively favorable - there is a high probability of remission in late adolescence.

Juvenile (youthful) myoclonus epilepsy (Jantz syndrome)

The disease was described by D. Janz and W. Christian (1957) as one of the subtypes of idiopathic generalized epilepsy (another name: “impulsive petit mal”). Usually debuts at the age of 8-26 years (usually at 12-18 years). The hallmark of the disease is myoclonic seizures. Isolated myoclonic twitching in the upper extremities is characteristic, especially soon after awakening. Most children have generalized tonic-clonic seizures, and about a third of patients have absence seizures. Seizures are often triggered by sleep deprivation. Myoclonic seizures are accompanied by short bursts of generalized peak-wave or polypeak-wave complexes during EEG.

Familial temporal lobe epilepsy

This genetically heterogeneous syndrome is characterized by relatively benign simple or complex partial (focal) seizures with a pronounced mental or autonomic aura. The disease usually debuts in the second (about 11 years) or early third decade of life (more often in adult individuals). Usually occurs against the background of normal development of the central nervous system. MRI of the brain does not reveal any pathological structural changes in the hippocampus or temporal lobes. EEG data allows recording epileptiform activity in the medial and/or lateral areas of the temporal lobes. Seizures in familial temporal lobe epilepsy are often easily controlled medically with traditional antiepileptic drugs.

Mesial temporal epilepsy

It often debuts in adolescents and is manifested by limbic seizures. In typical cases, in patients with a history of febrile convulsions, temporal lobe seizures occur after a seizure-free interval, which at first respond well to drug control. Subsequently, in adolescence or upon reaching adulthood, relapses of the disease are observed. MRI of the brain may show hippocampal sclerosis in patients, which is considered a key feature of this form of epileptic syndrome. All limbic seizures are more or less refractory to pharmacotherapy.

Familial mesial temporal epilepsy

This genetically determined heterogeneous epileptic syndrome was described by P. Hedera et al. (2007). The disease debuts at different ages, but most often in the second decade of life. In contrast to the mesiotemporal epilepsy described above, children usually have no history of febrile seizures. In most cases, patients experience simple focal seizures with déjà vu, periodically associated with stupor or nausea, in other cases - complex partial seizures with changes in consciousness and freezing; Secondary generalized attacks occur less frequently. In some patients, MRI shows no signs of hippocampal sclerosis or other abnormalities of cerebral structures. There are no pathological changes in EEG data in approximately half of the patients. Less than half of cases of familial mesial temporal epilepsy require treatment with antiepileptic drugs.

Partial (focal) autosomal dominant epilepsy with auditory stimuli

This form of the disease is actually one of the subtypes of lateral temporal lobe epilepsy; it is also known as telephone epilepsy. The disease debuts at the age of 8-19 years (most often in the second decade of life). Partial autosomal dominant epilepsy with auditory stimuli is characterized by auditory disturbances (the patient feels undifferentiated sounds and noises), auditory hallucinations (changes in the perception of volume and/or pitch of sounds, voices “from the past,” unusual singing, etc.). In addition to hearing impairments and hallucinations, this form of the disease is characterized by various autonomic disorders, pathological motor activity, as well as numerous sensory and mental disorders of varying severity. In the interictal period, during the EEG, patients may experience paroxysmal activity in the temporal or occipital leads (or be completely absent).

Epilepsy with grand mal attacks on awakening

In children, the onset of seizures with this idiopathic generalized epilepsy mainly occurs in the second decade of life. In its manifestations, the disease is somewhat reminiscent of juvenile myoclonus epilepsy of Janz. The development of tonic-clonic seizures occurs exclusively or predominantly after awakening (> 90% of cases) or in the evening during the period of relaxation. Seizures are caused by sleep deprivation. In contrast to Janz myoclonus epilepsy, myoclonus and absence seizures are rarely observed in patients with this form of epilepsy. EEG allows you to register generalized peak-wave activity and signs of photosensitivity (the latter are not always present).

Unferricht-Lundborg disease (Baltic or Finnish myoclonus epilepsy)

This rare form of epilepsy begins in children between the ages of 6 and 13 years (usually around 10 years of age). Its manifestations resemble Ramsay Hunt syndrome. The first symptoms are seizures. Myoclonus occurs after 1-5 years; they are noted mainly in the proximal muscles of the limbs, are bilaterally symmetrical, but asynchronous. Myoclonus is induced by photosensitivity. The severity of myoclonus gradually increases. Subsequently, a progressive decline in intelligence occurs (to the point of dementia). In later stages of the disease, patients develop signs of cerebellar ataxia.

Juvenile neuronal ceroid lipofuscinosis type III

This disease is also known as “progressive epilepsy with mental retardation” or “northern epilepsy”. It is a representative of neurodegenerative storage diseases. Debuts in preschool (5-6 years) or school (7-10 years) age. It is characterized by manifestation in the form of generalized seizures (tonic-clonic seizures) or complex partial (focal) seizures. As patients reach puberty, the frequency of attacks decreases significantly. In adulthood, it is possible to achieve complete remission of seizures.

Catamenial (menstrual) epilepsy

With this type of epilepsy, which is not an independent nosological form, the occurrence of attacks is associated with phases menstrual cycle, subject to the influence of numerous endogenous and exogenous factors (presumably, cyclical changes in the content of sex hormones in the body, disturbances in water and electrolyte balance, the influence of the full moon, fluctuations in the level of antiepileptic drugs in the blood). The disease is characterized by a clear dependence on the menstrual cycle. According to some data, generalized forms of the disease, juvenile myoclonus epilepsy and juvenile absence epilepsy occur with almost equal frequency among teenage girls. Generalized convulsive paroxysms usually tend to increase in frequency in all patients with catamenial epilepsy.

Epilepsy with an undifferentiated age range of onset

In some epilepsies, the age-related features of onset are considered unclear. The main ones are discussed below.

Epilepsy with myoclonic absence seizures

The disease most often occurs at the age of 5-10 years and is characterized by clinical manifestations in the form of absence seizures, combined with intense rhythmic bilateral clonic or (less often) tonic convulsive twitching of the proximal muscles of the upper and lower limbs, as well as heads. It is usually combined with mental development disorders and is characterized by pharmacoresistance, which determines the unfavorable prognosis of the disease. The diagnosis of epilepsy with myoclonic absence seizures is considered to be made in patients who meet the criteria for childhood absence epilepsy, but the absence seizures must be accompanied by myoclonic jerks. Treatable with valproate, ethosuximide or lamotrigine (the combination of valproate with lamotrigine or ethosuximide is considered more effective); Cancellation of treatment is possible no earlier than 2 years after achieving complete remission (clinical and instrumental).

Generalized epilepsy with febrile seizures plus

Refers to genetically determined epileptic syndromes and represents several types of epilepsy (GEFS+ type 1, GEFS+ type 2, GEFS+ type 3, GEFS+ type 5, FS with afebrile seizures and GEFS+ type 7). It is believed that in GEFS+, first described in 1997, a diagnosis of epilepsy is not necessary. Generalized epilepsy with febrile seizures plus usually occurs in children aged 1–6 years. Middle age children at the time of debut of GEFS+ is about 12 months. The disease manifests itself in the form of febrile convulsions against a background of fever and in the form of other epileptic paroxysms. In addition to recurrent febrile seizures (classic tonic-clonic), GEFS+ is characterized by the presence of afebrile seizures; clinical picture The disease may include absence seizures, myoclonus, myoclonic-astatic and atonic seizures. In most cases, GEFS+ phenotypes are benign (once they reach adolescence attacks are eliminated more often). Upon reaching adulthood, some patients may experience rare attacks (under the influence of stress and sleep deprivation). Generally, children with GEFS+ do not require antiepileptic pharmacotherapy, although some authors recommend the use of benzodiazepines (in acute attack or for preventive purposes). Valproate is indicated only in cases where GEFS+ persists after 6 years of age, and lamotrigine is used in cases resistant to valproate.

Benign psychomotor epilepsy of childhood, or benign partial epilepsy with affective symptoms

Localization-related focal form of epilepsy. The etiology can be cryptogenic, familial or symptomatic. Occurs in children of various ages(7-17 years old). Benign psychomotor epilepsy is characterized by recurrent seizures originating from lesions in the temporal lobe, most often from the mesial region. Typical for the disease wide range psychic phenomena, including illusions, hallucinations, dyscognitive conditions and affective disorders. Most complex partial (focal) seizures originate in the temporal lobes. This form of epilepsy is characterized by monoform seizures, beginning in childhood, age-dependent disappearance of all clinical and EEG manifestations.

Atypical benign partial epilepsy, or pseudo-Lennox syndrome

Mostly observed in children aged 2-6 years (74% of observations). At the time of the onset of the disease, approximately a quarter of children show signs of delayed speech development. In boys it debuts earlier than in girls. Characterized by generalized minor seizures (atonic-astatic, myoclonic, atpic absence seizures). A distinctive feature of the disease is the extremely pronounced activation of epileptic seizures during sleep. The main type of seizures is minor generalized (67%), with 28% of patients having simple partial seizures of the orofacial region (or generalized tonic-clonic seizures originating from the orofacial region). In addition to this, the following types of seizures occur with varying frequency in children (in descending order): generalized tonic-clonic (44%), partial motor (44%), unilateral (21%), versive (12%), focal atonic ( 9%), complex partials (2%). A small proportion of patients experience the phenomenon of epileptic negative myoclonus. The EEG pattern resembles that of rolandic epilepsy (focal sharp slow waves and peaks), but is characterized by generalization during sleep. With regard to seizures, the prognosis of the disease is favorable (all patients are “seizure free” by the age of 15), but children often have intellectual deficits varying degrees severity (about 56% of observations).

Aicardi syndrome

A type of epileptic syndrome associated with malformations of the central nervous system (cortical organization disorders, schizencephaly, polymicrogyria. The syndrome described by J. Aicardi et al. (1965) includes agenesis of the corpus callosum with chorioretinal disorders and is characterized by infantile flexor spasms. Affects almost exclusively girls, although known 2 cases of registration of the disease in boys with an abnormal genotype (both children had two X chromosomes) In addition to epileptic manifestations, the following are typical for Aicardi syndrome. pathological changes: chorioretinal lacunar defects, complete or partial agenesis of the corpus callosum, malformations thoracic spine, microphthalmia, coloboma optic nerve etc. Clinically, Aicardi syndrome is characterized by infantile spasms (often with an early onset) and partial (focal) epileptic seizures (in the first days or weeks of life), as well as a pronounced lag in intellectual development. Epileptic seizures in Aicardi syndrome are almost always pharmacoresistant. The prognosis of the disease is unfavorable.

Electrical status epilepticus slow-wave sleep (ESES)

This type of epilepsy is also known by another name (continuous peak-wave discharge epilepsy during slow-wave sleep, CSWS). It is considered idiopathic epilepsy and debuts in children from about 2 years of age. Clinically characterized by focal, generalized tonic-clonic and/or myoclonic seizures that occur while awake or asleep (not always observed). Subsequently, the disease leads to speech development disorders, behavioral disorders, and cognitive dysfunctions of varying severity. The diagnosis is established on the basis of EEG data during sleep (a specific pattern in the form of continuous generalized peak-wave activity); in this case, epileptiform activity should occupy 85-100% of the total duration of the slow-wave sleep phase. At the moment of awakening, the EEG allows you to register the presence of sharp waves. The prognosis in terms of the disappearance of epileptic seizures and EEG changes is relatively favorable (to puberty), but children still have impaired cognitive functions.

Frontal nocturnal autosomal dominant epilepsy

Refers to isolated epileptic syndromes. Debuts before the age of 20 (usually around 11 years of age). Seizures occur when falling asleep and/or waking up (in the form of short - up to 1 minute, episodes of hyperkinesis, with or without loss of consciousness); epileptic seizures preceded by an aura (feeling of fear, trembling or somatosensory phenomena). Secondary generalized seizures are observed in 50-60% of patients; In about a quarter of cases, attacks occur while awake.

Ictal EEG studies record sharp and slow waves or rhythmic low-voltage fast activity in the frontal leads. During the interictal period, EEG data may be normal or may show intermittent peaks in the frontal leads.

Conclusion

Among the epilepsies that occur in children of any age (0-18 years), it is necessary to list Kozhevnikovsky epilepsy (chronic progressive partial epilepsy, or epilepsia partialis continua), the clinical manifestations of which are well known to pediatric neurologists, as well as localization-related forms of epilepsy (frontal, temporal , parietal, occipital). The latter belong to symptomatic and probably symptomatic focal epilepsies, in which a wide range of symptoms is determined by the localization of the epileptogenic focus.

Read the continuation of the article in the next issue.

Literature

Brown T.R., Holmes G.L. Epilepsy. Clinical guidelines. Per. from English M.: Publishing house BINOM. 2006. 288 p.
Mukhin K. Yu., Petrukhin A. S. Idiopathic forms of epilepsy: taxonomy, diagnosis, therapy. M.: Art-Business Center, 2000. 319 p.
Epilepsy in neuropediatrics (collective monograph) / Ed. Studenikina V. M. M.: Dynasty, 2011, 440 p.
Child neurology (Menkes J. H., Sarnat H. B., Maria B. L., eds.). 7 th ed. Lippincott Williams & Wilkins. Philadelphia-Baltimore. 2006. 1286 p.
Epileptic syndromes in infancy, childhood and adolescence (Roger J., Bureau M., Dravet Ch., Genton P. et al, eds.). 4 th ed. (with video). Montrouge (France). John Libbey Eurotext. 2005. 604 p.
Encyclopedia of basic epilepsy research/Three-volume set (Schwartzkroin P., ed.). Vol. 1-3. Philadelphia. Elsevier/Academic Press. 2009. 2496 p.
Aicardi J. Diseases of the nervous system in children. 3rd ed. London. Mac Keith Press/Distributed by Wiley-Blackwell. 2009. 966 p.
Chapman K., Rho J.M. Pediatric epilepsy case studies. From infancy and childhood through infancy. CRC Press / Taylor&Francis Group. Boca Raton-London. 2009. 294 p.
Epilepsy: A comprehensive textbook (Engel J., Pedley T. A., eds.). 2nd ed. Vol. 1-3. Lippincott Williams&Wilkins/A Wolters Kluwer Business. 2008. 2986 p.

V. M. Studenikin, Doctor of Medical Sciences, Professor, Academician of the Russian Academy of Economics

FSBI "NTsZD" RAMS, Moscow