Idiopathic generalized and focal epilepsy

Convulsive disease, epilepsy, sacred, lunar – there are many names for the disease that manifests itself in frighteningly unexpected periodic seizures, during which patients suddenly fall to the floor, shaking in convulsions. We will talk about epilepsy, which modern medicine considers a chronic progressive neurological disease, the specific sign of which is unprovoked, regularly recurring seizures, both convulsive and non-convulsive. As a result of the disease, special personality changes can develop, leading to dementia and complete detachment from the ongoing life. Even the ancient Roman physician Claudius Galen distinguished two types of the disease: idiopathic epilepsy, that is, hereditary, primary, the symptoms of which appear at an early age, and secondary (symptomatic), developing later, under the influence of certain factors. [ 1 ]

In the updated International League Against Epilepsy classification, one of the six identified etiological categories of the disease is genetic – an independent primary disease that involves a hereditary predisposition or genetic mutations that have arisen de novo. In essence, this is idiopathic epilepsy in the previous edition. In this case, the patient has no organic lesions of the brain structures that could cause periodically recurring epileptic seizures, and no neurological symptoms are observed in the interictal period. Among the known forms of epilepsy, idiopathic epilepsy has the most favorable prognosis. [ 2 ], [ 3 ], [ 4 ]

Epidemiology

An estimated 50 million people worldwide suffer from epilepsy, most of whom do not have access to health care. [ 5 ], [ 6 ] A systematic review and meta-analysis of studies worldwide found that the point prevalence of active epilepsy was 6.38 per 1000 persons, and the lifetime prevalence was 7.6 per 1000 persons. The prevalence of epilepsy did not differ between sexes or age groups. The most common types are generalized seizures and epilepsy of unknown etiology. [ 7 ], [ 8 ]

On average, 0.4 to 1% of the world's population requires antiepileptic treatment. Statistics on the incidence of epilepsy in developed countries annually record 30 to 50 new cases of epileptic syndromes per 100,000 inhabitants. It is assumed that in countries with low levels of development, this figure is twice as high. Among all forms of epilepsy, cases of idiopathic epilepsy account for 25-29%. [ 9 ]

Causes idiopathic epilepsy

The disease manifests itself in the vast majority of cases in children and adolescents. Patients have no history of previous illnesses or injuries that caused brain damage. Modern neuroimaging methods do not determine the presence of morphological changes in cerebral structures. The cause of idiopathic epilepsy is considered to be a genetically inherited predisposition to the development of the disease (epileptogenicity of the brain), and not direct inheritance; cases of the disease are simply more common among the patient's relatives than in the population. [ 10 ]

Cases of familial idiopathic epilepsy are registered rarely, monogenic autosomal dominant transmission is currently determined for five episyndromes. Genes have been identified, the mutation of which causes benign familial neonatal and infantile seizures, generalized epilepsy with febrile seizures focal - frontal with night seizures and hearing impairment. In other episyndromes, a tendency to the development of a pathological process is presumably inherited. For example, to synchronization in all frequency ranges of the activity of neurons of the brain, called epileptic, that is, having an unstable potential difference on the inner and outer sides of its membrane in a non-excited state. In a state of excitation, the action potential of an epileptic neuron significantly exceeds the norm, which leads to the development of an epileptic seizure, as a result of the repetition of which the cellular membranes of neurons increasingly suffer and pathological ion exchange is formed through the destroyed neuronal membranes. This results in a vicious cycle: epileptic seizures as a result of repeated hyperintensive neural discharges lead to profound metabolic disturbances in the cells of the brain tissue, which contribute to the development of the next seizure. [ 11 ]

A specific feature of any epilepsy is the aggressiveness of epileptic neurons in relation to still unchanged cells of the brain tissue, which contributes to the diffuse spread of epileptogenicity and generalization of the process.

In idiopathic epilepsy, most patients have generalized seizure activity, and no specific epileptic focus is found. Several types of focal idiopathic epilepsies are currently known. [ 12 ]

Studies of juvenile myoclonic epilepsy (CAE) have identified chromosomes 20q, 8q24.3, and 1p (CAE was later renamed juvenile absence epilepsy). Studies of juvenile myoclonic epilepsy have shown that the susceptibility polymorphisms BRD2 on chromosome 6p21.3 and Cx-36 on chromosome 15q14 are associated with increased susceptibility to JME.[ 13 ],[ 14 ],[ 15 ] Despite this, the genetic mutation remains rare when a person is diagnosed with epilepsy.

Risk factors

Risk factors for the development of the disease are hypothetical. The main one is the presence of close relatives who suffered from epilepsy. In this case, the probability of getting sick immediately increases twofold or even fourfold. The pathogenesis of idiopathic epilepsy has yet to be fully clarified. [ 16 ]

It is also assumed that the patient may inherit weakness of the structures that protect the brain from overexcitation. These are the segments of the pons, the cuneate or caudate nucleus. In addition, the development of the disease in a person with an inherited predisposition may be provoked by a systemic metabolic pathology leading to an increase in the concentration of sodium ions or acetylcholine in the neurons of the brain. Generalized epileptic seizures may develop against the background of a deficiency of B vitamins, in particular, B6. Epileptics have been found to have a tendency to neurogliosis (according to pathological studies) - diffuse excessive proliferation of glial elements replacing dead neurons. Other factors that provoke increased excitability and the appearance of convulsive readiness against its background are periodically identified.

The risk factor for the development of genetic, as it will now be called, epilepsy is the presence of mutant genes that provoke the pathology. Moreover, the gene mutation does not necessarily have to be inherited, it can appear for the first time in a specific patient, and it is believed that the number of such cases is growing.

Pathogenesis

The mechanism of development of idiopathic epilepsy is based on genetically determined paroxysmal reactivity, i.e. the presence of a community of neurons with impaired electrogenesis. No external damaging effects are detected, as well as events that triggered the onset of seizures. However, the manifestation of the disease occurs at different ages: in some - from birth, in others - in early childhood, in others - in adolescence and youth, therefore some aspects of pathogenesis at the present stage, apparently, still remain unknown.

Symptoms idiopathic epilepsy

The main diagnostic sign of the disease is the presence of epileptic seizures, both convulsive and non-convulsive. Without them, all other symptoms, such as a characteristic electroencephalogram, anamnesis, cognitive and psychological characteristics of the patient, are not sufficient to establish the diagnosis of "epilepsy". The manifestation of the disease is usually associated with the first seizure, when it comes to epilepsy, this is the most accurate definition. An attack is a more general name, implying an unexpected sharp deterioration in health of any origin, a seizure is a special case of an attack, the cause of which is a transient dysfunction of the brain or its part.

Epileptics may experience various disorders of neuropsychiatric activity - major and minor seizures, acute and chronic mental disorders (depression, depersonalization, hallucinations, delusions), persistent personality transformations (inhibition, detachment).

However, I repeat, the first signs that allow diagnosing epilepsy are seizures. The most impressive attack of idiopathic epilepsy, which is impossible not to notice, is its generalized manifestation - a grand mal seizure. I will immediately stipulate that all components of the symptom complex that will be described below are not mandatory even for the generalized form. A specific patient may only have some of the manifestations.

In addition, usually on the eve of an attack, its precursors appear. The patient begins to feel worse, for example, his heartbeat increases, his head hurts, unmotivated anxiety appears, he can become angry and irritable, excited or depressed, gloomy and silent. On the eve of an attack, some patients spend the night without sleep. Usually, over time, the patient can already guess about the approach of an attack by his condition.

The formation of an epileptic seizure is divided into the following stages: aura, tonic-clonic seizures, and clouding of consciousness.

The aura already refers to the onset of a seizure and can manifest itself in the appearance of all sorts of sensations - tingling, pain, warm or cold touches, a light breeze in different parts of the body (sensory); flashes, glare, lightning, fire before the eyes (hallucinatory); sweating, chills, hot flashes, dizziness, dry mouth, migraine, cough, shortness of breath, etc. (vegetative). The aura can manifest itself in motor automatisms (motor) - the patient breaks out to run somewhere, begins to spin around his axis, wave his arms, scream. Sometimes one-sided movements are made (with the left hand, leg, half of the body). The mental aura can manifest itself in attacks of anxiety, derealization, more complex than in hallucinatory, auditory, sensory or visual hallucinations. There may be no aura at all.

Then the second stage immediately develops – the seizure itself. The patient loses consciousness, his body muscles completely relax (atony), he falls. The fall happens unexpectedly for those around him (the aura often remains unnoticed by them). Most often, a person falls forward, somewhat less often – backwards or to the side. After the fall, the tonic tension phase begins – the muscles of the whole body or some part of it tense up, stiffen, the patient stretches out, his blood pressure rises, his heart rate increases, his lips turn blue. The muscle tone stage lasts about half a minute, then rhythmic continuous contractions begin – the tonic phase is replaced by the clonic one – increasing intermittent chaotic movements of the limbs (ever more abrupt flexion-extension), head, facial muscles, sometimes the eyes (rotation, nystagmus). Jaw spasms often lead to biting the tongue during a seizure – a classic manifestation of epilepsy, which is known to almost everyone. Hypersalivation is manifested by foaming at the mouth, often stained with blood when biting the tongue. Clonic spasms of the larynx muscles lead to sound phenomena during the seizure - mooing, groaning. During the seizure, the sphincter muscles of the bladder and anus often relax, which leads to involuntary urination and bowel movement. Clonic spasms last one or two minutes. During the seizure, the patient has no skin and tendon reflexes. The tonic-clonic stage of the seizure ends with gradual muscle relaxation and fading of seizure activity. At first, the patient is in a state of clouded consciousness - some disorientation, difficulty communicating (speaks with difficulty, forgets words). He still has a tremor, some muscles twitch, but gradually everything returns to normal. After the attack, the patient feels completely exhausted and usually falls asleep for several hours; upon awakening, asthenic symptoms still remain – weakness, malaise, bad mood, vision problems.

Idiopathic epilepsy may also occur with minor seizures. These include absences, simple or typical. Complex atypical absences are not characteristic of idiopathic epilepsy. Typical ones are generalized short-term seizures during which the patient freezes with a fixed gaze. The duration of an absence is usually no more than a minute, during which time the patient's consciousness switches off, he does not fall, but drops everything he is holding in his hands. He does not remember the attack, often continues the interrupted activity. Simple absences occur without an aura and clouding of consciousness after the attack, usually accompanied by spasms of the facial muscles, mainly involving the eyelids and mouth and / or oral automatisms - smacking, chewing, licking the lips. Sometimes there are non-convulsive absences so short-term that the patient does not even notice them. Complains that his vision suddenly went dark. In this case, the object dropped from his hands may be the only evidence of an epileptic seizure.

Propulsive seizures - nodding, pecking, "salam-seizures" and other movements of the head or the whole body, directed forward, are caused by weakening of the postural tone of the muscles. Patients do not fall. They are mainly found in children under four years of age, more often in boys. They are characteristic of night attacks of the disease. At a later age, they are replaced by major epileptic seizures.

Myoclonus is a rapid reflex contraction of muscles that manifests itself as twitching. Convulsions may be observed throughout the body or affect only a certain group of muscles. An electroencephalogram taken at the time of a myoclonic seizure shows the presence of epileptic discharges.

Tonic – prolonged contractions of any group of muscles or the entire musculature of the body, during which a certain position is maintained for a long time.

Atonic – fragmentary or complete loss of muscle tone. Generalized atony with a fall and loss of consciousness is sometimes the only symptom of an epileptic seizure.

Seizures are often of a mixed nature - absences are combined with generalized tonic-clonic seizures, myoclonic with atonic, etc. Non-convulsive forms of seizures may occur - twilight consciousness with hallucinations and delirium, various automatisms and trances.

Forms

The vast majority of cases related to idiopathic epilepsy manifest in childhood and adolescence. This group includes epileptic syndromes that are mostly relatively benign, that is, they respond well to therapy or do not require it at all and pass without consequences for the neurological status, which is normal outside of seizures. Also, in terms of their intellectual development, children do not lag behind healthy peers. They have a preserved basic rhythm on the electroencephalogram, and modern neuroimaging methods do not detect structural abnormalities of the brain, although this does not mean that they are not actually there. Sometimes they are detected later, and it is not yet clear whether they were “overlooked” or whether they provoked the seizures.

Idiopathic epilepsy has an age-dependent onset and, in general, a favorable prognosis. But sometimes one form of the disease transforms into another, for example, childhood absence epilepsy into juvenile myoclonic. The likelihood of such a transformation and seizures at a later age increases in those children whose close relatives also suffered both in childhood and in adulthood.

The types of idiopathic epilepsy are not clearly defined, there are discrepancies in the classifiers, some forms do not have strict diagnostic criteria, such as childhood absence epilepsy.

Idiopathic generalized epilepsy

The earliest form of the disease - benign familial and non-familial neonatal/infantile seizures is detected in full-term newborns literally on the second or third day after birth. Moreover, children are mainly born to women who have successfully carried and given birth to their babies without significant complications. The average age of development of familial forms is 6.5 months, non-familial - nine. Currently, genes (long arm of chromosomes 8 and 20) have been identified, the mutation of which is associated with the development of the familial form of the disease. Other provoking factors, except for the fact that there were cases of seizures in the family history, are absent. In an infant with this form of the disease, very frequent (up to 30 per day) short, one- to two-minute seizures are observed, generalized, focal or with the addition of focal tonic-clonic seizures, accompanied by episodes of apnea. [ 17 ]

Idiopathic myoclonic epilepsy of childhood manifests in most patients, starting from the age of four months to three years. It is characterized only by myoclonus with preservation of consciousness, manifested by a series of propulsions - fast nodding movements of the head with the abduction of the eyeballs. In some cases, the convulsions spread to the muscles of the shoulder girdle. If a propulsive seizure begins while walking, this leads to a lightning fall. The onset of a seizure can be provoked by a sharp sound, an unexpected and unpleasant touch, interruption of sleep or awakening, in rare cases - rhythmic photostimulation (watching TV, turning on / off the light).

Childhood epilepsy with myoclonic-atonic seizures is another form of generalized idiopathic (genetic) disease. The age of manifestation is from ten months to five years. Most people immediately develop generalized seizures lasting 30-120 seconds. A specific symptom is the so-called "knee kick", a consequence of myoclonus of the limbs, propulsive nodding movements of the trunk. Consciousness is usually preserved during a seizure. Myoclonus with an atonic component is often accompanied by typical absences, during which consciousness is switched off. Absences are observed in the morning after waking up, have a high frequency, and are sometimes supplemented by a myoclonic component. In addition, about a third of children with generalized myoclonic-atonic epilepsy also develop partial motor seizures. In this case, the prognosis worsens, especially in cases where they are observed very often. This may be a sign of the development of Lennox-Gastaut syndrome.

Generalized idiopathic epilepsy in children also includes absence forms of the disease.

Absence epilepsy of infancy manifests itself in the first four years of life, and is more common in male children. It manifests itself mainly in simple absences. In approximately 2/5 cases, absences are combined with myoclonic and/or astatic components. In 2/3 cases, the disease begins with generalized tonic-clonic seizures. Children may have some developmental delay.

Pycnolepsy (childhood absence epilepsy) first appears most often in children aged five to seven years, girls are more susceptible. It is characterized by a sudden loss of consciousness or significant confusion for a period of two to 30 seconds and very frequent repetition of seizures - there may be about a hundred per day. Motor manifestations of seizures are minimal or absent altogether, but if typical absences are preceded by an aura and post-seizure clouding of consciousness is observed, then such seizures are classified as pseudo-absences.

Pycnolepsy may cause atypical absences with various components - myoclonus, tonic convulsions, atonic states, sometimes automatisms are observed. Various events may stimulate an increase in seizure frequency - sudden awakening, intense breathing, a sharp change in lighting. In a third of patients, generalized convulsive seizures may join in the second or third year of the disease.

Juvenile absence epilepsy develops in adolescence and youth (from nine to 21 years of age), begins with absences in about half of the cases, and may debut with generalized convulsive seizures, which often occur at the moment of interruption of sleep, awakening, or going to bed. The frequency of seizures is one in two or three days. The stimulating factor for the development of absence is hyperventilation. Absence states are accompanied by twitching of the facial muscles or pharyngeal and oral automatisms. In 15% of patients, close relatives also suffered from juvenile absence epilepsy.

Epilepsy with myoclonic absences (Tassinari syndrome) is distinguished separately. It manifests itself from one to seven years, is characterized by frequent absences, especially in the morning, combined with massive muscle contractions in the shoulder girdle and upper limbs (myoclonus). Photosensitivity is not typical for this form, the provocation of the onset of an attack is hyperventilation. In half of the sick children, neurological disorders are observed against the background of hyperactive behavior and decreased intelligence.

Idiopathic generalized epilepsy in adults accounts for about 10% of all cases of epilepsy in adulthood. Experts believe that such diagnostic findings in patients over 20 and even 30 years old are the result of late diagnosis due to the fact that patients and their relatives ignored absences and myoclonic seizures in childhood, the recurrence of which occurred over a long period of time (more than 5 years). It is also assumed that an unusually late manifestation of the disease can very rarely occur.

Also, the causes of late manifestations of the disease are named as erroneous diagnosis and the associated inadequate therapy, resistance to adequate therapy of seizures, relapses of idiopathic epilepsy after discontinuation of treatment.

Idiopathic focal epilepsy

In this case, the main and often the only symptom of the disease is partial (localized, focal) epileptic seizures. In some forms of this disease, genes associated with each of them have been mapped. These are idiopathic occipital epilepsy, partial with affective seizures, familial temporal and essential epilepsy of reading.

In other cases, it is only known that localized idiopathic epilepsy occurs as a result of gene mutations, but the exact genes responsible have not been identified. These are autosomal dominant nocturnal frontal lobe epilepsy and focal epilepsy with auditory symptoms.

The most common localized disease is rolandic epilepsy (15% of all cases of epilepsy manifested before the age of 15). The disease manifests itself in children from three to 14 years of age, its peak is at 5-8 years. A characteristic diagnostic sign is the so-called "rolandic peaks" - complexes on the electroencephalogram recorded in the intraictal (interictal) period. They are also called benign epileptic paroxysms of childhood. Localization of epileptic foci in this form of epilepsy is in the peri-rolandic region of the brain and its lower parts. Rolandic epilepsy in most cases develops in children with normal neurological status (idiopathic), but symptomatic cases are also possible, when organic lesions of the central nervous system are detected.

In the vast majority of patients (up to 80%), the disease manifests itself mainly in rare (twice or three times a month) simple focal seizures that begin in sleep. Upon awakening or during a seizure during the day, patients note that it begins with a somatosensory aura - unilateral paresthesias involving the oral cavity (tongue, gums) or pharynx. Then a focal seizure develops. Convulsive contractions of the facial muscles occur in 37% of cases, the muscles of the mouth and pharynx - in 53%, accompanied by severe hypersalivation. In sleep, patients vocalize - gurgling, rumbling sounds. In a fifth of patients, the muscles of the shoulder and arm are involved in muscle contractions (brachiofascial seizures), and twice as rarely they can spread to the lower limb (unilateral). Over time, the localization of muscle contractions can change - move to the other side of the body. Sometimes, in about a quarter of cases, more often in younger children, secondary generalized seizures develop during sleep. Up to the age of 15, 97% of patients experience complete therapeutic remission.

Much less common is idiopathic occipital epilepsy with late onset (Gastaut type). This is a separate disease, manifesting from three to 15 years, with a peak at the age of eight. Non-convulsive seizures occur frequently, expressed in elementary visual hallucinations that develop quickly and last from a few seconds to three minutes, more often during the daytime or after waking up. On average, the seizure frequency is once a week. In the overwhelming majority of cases, the patient does not make contact in the paroxysmal state. Seizures can progress with the appearance of symptoms such as blinking, illusions of pain, blindness. Vomiting is rare. May be accompanied by headache. Some develop complex visual hallucinations, other symptoms and a secondary generalized seizure. By the age of 15, 82% of patients diagnosed with Gastaut syndrome achieve therapeutic remission.

Panayiotopoulos syndrome is also distinguished as a variant of the previous form. It occurs ten times more often than the classic Gastaut syndrome. Idiopathic occipital epilepsy of this type can have an early onset. The peak of manifestation falls at the age of 3-6 years, but the syndrome can develop in a one-year-old child and an eight-year-old. Moreover, the highest risk of repeated seizures is associated with an earlier onset. It is assumed that some cases are not diagnosed, since the attacks mainly have vegetative manifestations, the dominant symptom is an attack of vomiting. The child's consciousness is not impaired, he complains of poor health and severe nausea, which resolves with severe vomiting with other manifestations up to clouding of consciousness and convulsions. Another form of seizures of Panayiotopoulos syndrome is syncopal or fainting. Fainting occurs with tonic or myoclonic components, sometimes with urinary and fecal incontinence, ending in a state of asthenia and sleep. The seizures are long, from half an hour to seven hours, and usually begin at night. The frequency is low. Sometimes only one seizure occurs during the entire period of the disease. In 92% of patients, remission of Panayopoulos syndrome is observed for up to 9 years.

It is assumed that benign childhood epilepsy with affective seizures (Dall-Bernardine syndrome) is also a variant of occipital or rolandic epilepsy. The onset is recorded from two to nine years. The seizures look like attacks of terror, crying, screaming with manifestations of pallor, increased sweating, salivation, abdominal pain, automatisms, confusion. Seizures often develop in sleep, immediately after falling asleep, but can also occur during the day. They occur spontaneously, during conversation, any activities without visible stimulation. In most cases, remission occurs before reaching the age of 18.

The above-described forms of partial idiopathic epilepsy manifest only in childhood. The others can develop at any time.

Photosensitive localized idiopathic epilepsy refers to the manifestations of the occipital. The seizures are identical to spontaneous ones, may be supplemented by vegetative symptoms and sometimes develop into secondary generalized tonic-clonic seizures. The factor that provokes their onset is frequent flashing lights, in particular, seizures often occur during video games or watching TV. They manifest from 15 months to 19 years.

Idiopathic partial epilepsy with auditory symptoms (lateral temporal, familial) begins with the appearance of an aura with audio phenomena. The patient hears blows, rustling, hissing, ringing, other intrusive sounds, complex auditory hallucinations (music, singing), against the background of which a secondarily generalized seizure may develop. Manifestation occurs at the age of three to 51 years. A characteristic feature of this form is infrequent seizures and a favorable prognosis.

Idiopathic partial epilepsy with pseudogeneralized seizures, which are atypical absences, atonic seizures, and eyelid myoclonus in combination with partial motor seizures, may resemble epileptic encephalopathies in electroencephalogram. However, in children, there is no neurological deficit, and neuroimaging methods do not reveal structural defects.

There is also a genetically determined familial autosomal dominant frontal epilepsy with nocturnal paroxysms. The range of onset times is very large, seizures can develop from two to 56 years, its exact prevalence is unknown, but the number of families is growing worldwide. Hypermotor seizures occur almost every night. Their duration is from half an hour to 50 minutes. Clonic convulsions often join in, patients, coming to their senses, find themselves lying on the floor or in an unusual position or place. At the time of the seizure, there is a sharp awakening, consciousness is preserved, after the seizure the patient again falls asleep. The onset of a seizure is always associated with sleep - before, during or after. Seizures are usually lifelong, becoming less frequent in old age.

Reading epilepsy (graphogenic, speech-induced), a rare type of idiopathic. The onset occurs in late adolescence (12-19 years), and is much more common among teenage boys. The seizure begins soon after the onset of reading, writing, or talking - the provocative stimulus is speech, not only written but also oral. Short myoclonus occurs, in which the muscles of the mouth and larynx are involved. If the patient continues reading, the seizure often develops further into generalized tonic-clonic seizures. In rare cases, visual hallucinations may join in. There may be long seizures with speech impairment. If the patient's behavior is structured correctly, severe seizures do not develop. A prognostically favorable form.

Complications and consequences

Idiopathic age-dependent epilepsy is generally treatable, and sometimes does not require treatment at all and passes without consequences. However, it is not worth ignoring its symptoms and hoping that the disease will stop on its own. Epileptiform activity, especially in childhood and adolescence, when the brain matures and personality develops, is one of the reasons for the development of some neurological deficit, leading to deterioration of cognitive abilities and complicating social adaptation in the future. In addition, in some patients, seizures are transformed and are observed already in adulthood, significantly reducing their quality of life. Such cases are associated with both hereditary predisposition and early termination of treatment or its absence.

In addition, epileptic encephalopathies may also manifest in childhood, the symptoms of which often resemble benign idiopathic forms in the initial stage. Therefore, a thorough examination of the patient and subsequent treatment is an urgent need.

Diagnostics idiopathic epilepsy

The diagnostic criterion for this disease is the presence of epileptic seizures. In this case, the patient must be examined comprehensively. In addition to a thorough collection of anamnesis not only of the patient himself, but also of the family, laboratory and hardware studies are carried out. It is currently impossible to establish a diagnosis of epilepsy by laboratory methods, but clinical tests are mandatory to clarify the general health of the patient.

Also, to determine the origin of seizures, instrumental diagnostics are prescribed. The main hardware method is electroencephalography in the interictal period and, if possible, during seizures. The decoding of the electroencephalogram is carried out according to the ILAE (International League Against Epileptics) criteria.

Video monitoring is also used, making it possible to observe short seizures, the onset of which is very difficult to predict or stimulate.

Idiopathic epilepsy is diagnosed in cases where there is no organic damage to the brain structures, for which modern neuroimaging methods are used – computer and magnetic resonance imaging. Electrocardiography and echocardiography are prescribed to assess the heart function, often in dynamics and under load. Blood pressure is regularly monitored. [ 18 ]

The patient is also prescribed a neuropsychological, otoneurological and neuro-ophthalmological examination; other examinations may be prescribed as indicated.

Differential diagnosis

Differential diagnostics of idiopathic epilepsy is quite complicated. Firstly, in this case, structural transformations of the brain matter are not detected, secondly, the age of manifestation often does not allow interviewing the patient, thirdly, epileptic seizures are often masked as fainting, psychogenic seizures, sleep disorders and others caused by neurological and somatic diseases.

Epileptic seizures are differentiated from a number of conditions: vegetative and psychogenic seizures, myodystonia, paroxysmal myoplegia, syncope, epileptiform seizures in acute cerebrovascular accidents, sleep disorders, etc. One should be alerted by the presence of a factor provoking an attack, such as a standing position, overeating, a hot bath, stuffiness; a pronounced emotional component; an uncharacteristic clinical picture and duration; a lack of some symptoms, for example, clouding of consciousness and sleep in the post-seizure period, the absence of close relatives suffering from epilepsy, and other inconsistencies. Given the seriousness of the disease and the toxicity of anticonvulsants, not only the prognosis for recovery, but also the life of the patient often depends on the correct diagnosis. [ 19 ]

Treatment idiopathic epilepsy

Basically, various forms of idiopathic epilepsy require long-term drug therapy to achieve long-term remission and absence of relapses, especially in cases of juvenile absence and myoclonic epilepsy. In some cases, there is a lifelong need to take medications. Although, for example, benign familial neonatal seizures in most cases are self-limited, so anticonvulsant therapy is not always considered justified, but, nevertheless, sometimes drug treatment is prescribed in short courses. In any case, the question of its appropriateness, choice of drug and duration of treatment should be decided individually by the doctor after a thorough examination of the patient.

In idiopathic generalized epilepsy (various forms, including infantile spasms), as well as focal seizures, valproates have proven to be the most effective. With monotherapy with the drug, the treatment effect is achieved in 75% of cases. It can be used in combination with other anticonvulsants. [ 20 ]

Medicines with the active substance sodium valproate (valproic acid), such as Depakine or Convulex, prevent the development of typical absence seizures, as well as myoclonic, tonic-clonic, atonic seizures. They eliminate photostimulation and correct behavioral and cognitive deviations in patients with epilepsy. The anticonvulsant effect of valproates is presumably carried out in two ways. The main, dose-dependent one is a direct increase in the concentration of the active ingredient in the blood and, consequently, in the brain tissue, which contributes to an increase in the content of γ-aminobutyric acid, activating the inhibition processes. The second, additional mechanism of action may hypothetically be associated with the accumulation of sodium valproate metabolites in cerebral tissues or with changes in neurotransmitters. It is possible that the drug has a direct effect on the membranes of neurons. Contraindicated in case of hypersensitivity to valproic acid derivatives, patients with chronic hepatitis even in family history and hepatic porphyria, with deficiency of enzymes involved in the breakdown of auxiliary components of the drug. The development of a wide range of side effects is also dose-dependent. Adverse reactions may occur from the hematopoiesis, central nervous system, digestive and excretory organs, immune system. Valproic acid has teratogenic properties. Combination therapy with Lamotrigine is not recommended due to the high risk of developing allergic dermatitis up to Lyell's syndrome. The combination of valproates with herbal preparations containing St. John's wort is contraindicated. These drugs should be combined with neuropsychotropic drugs with caution, if necessary, the dose is adjusted. [ 21 ]

Clonazepam, which enhances the inhibitory effects of γ-aminobutyric acid, is an effective remedy for generalized seizures of all types. It is used in short courses of treatment and in low therapeutically effective doses. Long courses in idiopathic epilepsy are undesirable, the use of the drug is limited by side effects (including paradoxical ones - increased seizures and convulsions), as well as a fairly rapid development of addiction. Contraindicated in patients prone to respiratory arrest during sleep, muscle weakness and clouding of consciousness. Also not prescribed to sensitized individuals and patients with severe liver / kidney failure. Has teratogenic properties.

Lamotrigine helps control generalized absence and tonic-clonic seizures. The drug is not usually prescribed to control myoclonic seizures due to the unpredictability of its action. The main anticonvulsant effect of the drug is associated with the ability to block the flow of sodium ions through the channels of presynaptic membranes of neurons, thereby slowing down the excessive release of excitatory neurotransmitters, primarily glutamic acid, as the most common and significant in the development of epileptic seizures. Additional effects are associated with the impact on calcium channels, GABA and serotonergic mechanisms.

Lamotrigine has less significant side effects than classic anticonvulsants. Its use is allowed, if necessary, even in pregnant patients. It is called the drug of choice for generalized and focal idiopathic epilepsy.

Ethosuximide is the drug of choice for simple absences (childhood absence epilepsy). However, it is less effective for myoclonus and has virtually no control over generalized tonic-clonic seizures. Therefore, it is no longer prescribed for juvenile absence epilepsy with a high risk of developing generalized tonic-clonic seizures. The most common side effects are limited to dyspeptic symptoms, skin rash, headache, however, sometimes changes in the blood picture and tremor of the limbs may be observed. In rare cases, paradoxical effects develop - major epileptic seizures.

The new anticonvulsant Topiramate, a fructose derivative, is also recommended for controlling generalized and local seizures of idiopathic epilepsy. Unlike Lamotrigine and classic anticonvulsants, it is not able to relieve affective symptoms. The drug is still being studied, but control over epileptic seizures has already been proven. Its mechanism of action is based on the blockade of potential-dependent sodium channels, which inhibits the occurrence of repeated excitation potentials. It also promotes activation of the inhibitory mediator γ-aminobutyric acid. There is no information yet on the occurrence of addiction when taking Topiramate. It is contraindicated for children under six years of age, pregnant and lactating women, and also for people hypersensitive to the components of the drug. Topiramate has many side effects, like other drugs with central anticonvulsant action.

Another new drug used in the treatment of idiopathic epilepsy is Levetiracetam. Its mechanism of action is poorly understood, but the drug does not block sodium and T-calcium channels and does not enhance GABA-ergic transmission. It is assumed that the anticonvulsant effect is realized when the drug substance attaches to the synaptic vesicular protein SV2A. Levetiracetam also exhibits moderate anxiolytic and antimanic effects.

In ongoing clinical trials, the drug has proven itself to be an effective means of controlling partial seizures and as an additional drug in the complex therapy of generalized myoclonic and tonic-clonic seizures. However, studies of the antiepileptic effect of Levetiracetam will continue.

Today, the drugs of choice for the treatment of idiopathic generalized epilepsy with absence seizures are first-line monotherapy with valproates, ethosuximide, lamotrigine, or a combination of valproates and ethosuximide. Second-line drugs for monotherapy are topiramate, clonazepam, and levetiracetam. In resistant cases, polytherapy is used. [ 22 ]

Idiopathic generalized epilepsy with myoclonic seizures is recommended to be treated as follows: first line – valproate or levetiracetam; second – topiramate or clonazepam; third – piracetam or polytherapy.

Generalized tonic-clonic seizures are treated with monotherapy with valproates, topiramate, lamotrigine; second-line drugs are barbiturates, clonazepam, carbamazepine; polytherapy.

In generalized idiopathic epilepsy, it is preferable to avoid prescribing classic anticonvulsant drugs - carbamazepine, hapabentine, phenytoin and others, which can increase the frequency of seizures up to the development of status epilepticus.

Focal seizures are still recommended to be controlled with classic drugs with the active substance carbamazepine or phenytoin or valproates. In case of rolandic epilepsy, monotherapy is used, anticonvulsants are prescribed in the minimum effective dosage (valproates, carbamazepines, diphenin). Complex therapy and barbiturates are not used.

In idiopathic partial epilepsies, intellectual and memory disorders are usually absent, so specialists do not consider aggressive antiepileptic polytherapy justified. Monotherapy with classical anticonvulsants is used.

The duration of therapy, frequency of administration and doses are determined individually. Drug treatment is recommended to be prescribed only after a repeated seizure, and two years after the last one, the issue of drug withdrawal can already be considered.

In the pathogenesis of seizures, there is often a deficiency of B vitamins, in particular B1 and B6, selenium and magnesium. In patients undergoing anticonvulsant therapy, the content of vitamins and mineral components, such as biotin (B7) or vitamin E, also decreases. When taking valproates, levocarnitine reduces seizure activity. Vitamin D deficiency may develop, causing calcium malabsorption and bone fragility. In newborns, seizures may be caused by folic acid deficiency; if the mother took anticonvulsants, vitamin K deficiency may develop, affecting blood clotting. Vitamins and minerals may be necessary for idiopathic epilepsy, however, the advisability of their use is determined by the doctor. Uncontrolled use can lead to undesirable consequences and aggravate the course of the disease. [ 23 ]

Physiotherapy is not used for current epileptic seizures. Physiotherapy, therapeutic exercises, and massage are prescribed after six months have passed since the onset of remission. In the early rehabilitation period (from six months to two years), various types of physical intervention are used, except for all interventions on the head area, hydromassage, mud therapy, cutaneous electrical stimulation of muscles and projections of peripheral nerves. With remission for more than 2 years, rehabilitation measures after treatment of idiopathic epilepsy include the full range of physiotherapy procedures. In some cases, for example, if the electroencephalogram shows signs of epileptiform activity, the question of the possibility of physiotherapy is decided individually. The procedures are prescribed taking into account the leading pathological symptom.

Folk remedies

Epilepsy is a very serious disease, and treating it with folk remedies these days, when drugs have appeared that control seizures, is at least unreasonable. You can use folk remedies, but only after they have been approved by your doctor. Unfortunately, they cannot replace carefully selected medications, and in addition, they can reduce their effectiveness.

It is probably quite safe to take a bath with a decoction of hay from grass that grew in the forest. This is how epileptics were treated in the old days.

Another folk method that can be tried in the summer, for city dwellers, for example, at the dacha. It is recommended to go outside early in the summer morning, before the morning dew has dried, and lay out a large towel, sheet, blanket made of natural fabric - cotton or linen - on the grass. It should be soaked in dew. Then wrap the patient in the cloth, lay him down or sit him down, do not remove it until it dries on his body (the method is fraught with hypothermia and colds).

The aroma of the resin of the myrrh tree (myrrh) has a very beneficial effect on the nervous system. It was believed that an epileptic patient should inhale the aroma of myrrh around the clock for a month. To do this, you can fill an aroma lamp with myrrh oil (a few drops) or bring pieces of resin from the church and scatter a suspension of them in the patient's room. Just keep in mind that any smell can cause an allergic reaction.

Drinking freshly squeezed juices will replenish the lack of vitamins and microelements during the period of taking anticonvulsant medications.

Fresh cherry juice is recommended, one third of a glass twice a day. This drink has anti-inflammatory and bactericidal effects, soothes, relieves vascular spasms, and is an anesthetic. It is capable of binding free radicals. It improves blood composition, prevents the development of anemia, and removes toxins. Cherry juice is one of the healthiest, it contains B vitamins, including folic and nicotinic acid, vitamins A and E, ascorbic acid, iron, magnesium, potassium, calcium, sugars, pectins, and many other valuable substances.

Also, as a general tonic, you can take juice from green oat sprouts and its spikelets in the milky ripeness stage. This juice, like others, is drunk before meals, a third of a glass two or three times a day. Young oat sprouts have a very valuable composition: vitamins A, B, C, E, enzymes, iron, magnesium. The juice will cleanse the blood and restore its composition, raise immunity, normalize metabolism.

From medicinal plants, you can also make decoctions, infusions, teas and use them to strengthen the immune system, nervous system and the body as a whole. Herbal treatment cannot replace anticonvulsants, but can complement their effect. Plants with calming properties are used - peony, motherwort, valerian. St. John's wort, according to traditional healers, can reduce the frequency of seizures and reduce anxiety. It is a natural anxiolytic, however, it is not compatible with valproates.

An infusion of mountain arnica flowers is taken in a single dose of 2-3 tablespoons before meals three to five times a day. Infuse a tablespoon of dry flowers, pour a glass of boiling water, for an hour or two. Then strain.

Angelica rhizomes are dried, crushed and taken as an infusion of half a glass before meals three to four times a day. The daily dose is brewed as follows: 400 ml of boiling water is poured over two tablespoons of plant material. After two to three hours, the infusion is filtered and drunk warm, each time slightly warming up before taking.

Homeopathy

Homeopathic treatment of idiopathic epilepsy should be supervised by a homeopathic physician. There are enough remedies for the treatment of this disease: Belladonna

Belladonna is used for atonic seizures, convulsions, and the drug can also be effective for partial epilepsy with auditory symptoms.

Bufo rana is good for stopping nighttime seizures, regardless of whether the patient wakes up or not, and Cocculus indicus is good for stopping seizures that occur in the morning when the patient wakes up.
Mercurius and Laurocerasus are used for seizures with an atonic component and tonic-clonic convulsions.

There are many other drugs used in the treatment of epileptic syndromes. When prescribing homeopathic drugs, not only the leading symptoms of the disease are taken into account, but also the patient's constitutional type, habits, character traits and preferences.

In addition, homeopathy can help to quickly and efficiently recover after a course of treatment with anticonvulsants.

Surgical treatment

A radical method of treating epilepsy is surgical intervention. It is performed in cases of resistance to drug therapy, frequent and severe focal seizures that cause irreparable harm to the health of patients and significantly complicate their life in society. In idiopathic epilepsy, surgical treatment is performed in rare cases, since it responds well to conservative therapy.

Surgical operations are highly effective. Sometimes surgical treatment is performed in early childhood and allows to avoid cognitive impairment.

Preoperative examination is of great importance for establishing true drug resistance. Then the location of the epileptogenic focus and the scope of surgical intervention are determined as accurately as possible. Epileptogenic areas of the cerebral cortex in focal epilepsy are removed or disconnected using multiple incisions. In generalized epilepsy, hemispherotomy is recommended - a surgical procedure that results in the cessation of pathological impulses that cause seizures between the hemispheres of the brain.

A stimulator is also implanted into the collarbone area, which acts on the vagus nerve and helps reduce pathological activity of the brain and the frequency of seizures. [ 24 ]

Prevention

It is almost impossible to prevent the development of idiopathic epilepsy, however, even women with epilepsy have a 97% chance of giving birth to a healthy child. It is increased by a healthy lifestyle of both parents, a successfully carried pregnancy, and natural childbirth.

Forecast

The vast majority of cases of idiopathic epilepsy are benign and have a favorable prognosis. Complete therapeutic remission is achieved on average in more than 80% of patients, although some forms of the disease, especially those developing in adolescents, require long-term antiepileptic therapy. Sometimes it is lifelong. [ 25 ] However, modern drugs generally allow seizures to be controlled and provide patients with a normal quality of life.