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Epilepsy prescribed in one line in the table of contents of any textbook on diseases of the nervous system is a diverse pathological state of clinical manifestations, manifested by sudden and unpredictable motor, sensory, autonomic and mental disorders, most often with partial or complete loss of consciousness. The clinical manifestations of the disease causes a spontaneous synchronized electrical discharge of neurons in the brain. At the basis of the generalization of these impulses lie diverse pathogenetic mechanisms - from structural to metabolic disturbances in the substance of the brain. Like any seizure of cerebral origin, an epileptic seizure has a tremendous psychological effect on others, even medical personnel. Apparently, this can be explained by the phenomenological similarity of manifestations of epilepsy with convulsions during agony. Epileptic seizures can pose a significant threat to life. Death during seizures may occur with accompanying autonomic disorders (3.2% of patients) or as a result of an accident, injury or drowning. Trauma is the most frequent consequence of an epileptic seizure and is observed in 30%, and drowning in 19% of cases.

It was morphologically established that during epilepsy, glial tissue (mesial sclerosis) grows in the hippocampus, pathological inclusions and atrophy are possible in other brain tissues. As a result of biochemical studies revealed the role of biologically active compounds of glutamate and aspartate, precursors of gamma-aminobutyric acid, and dysfunction of ion channels of cell membranes, when sodium ions are injected into the cell in excess, which leads to swelling, swelling, and then to its death .

Treatment of epilepsy can be started only after an accurate diagnosis has been established. The terms “pre-epilepsy” and “prophylactic treatment of epilepsy” are absurd. According to most experts, the treatment of epilepsy should begin after a second attack.

A single paroxysm can be accidental, caused by fever, overheating, intoxication, metabolic disorders and does not apply to epilepsy. In this case, the immediate appointment of anticonvulsants is unjustified, since these drugs are potentially highly toxic and are not used for the purpose of “prevention”. The appointment of antiepileptic therapy after the first attack is possible if there are a combination of the following signs: focal neurological symptoms, decreased intelligence, epilepsy in relatives, clear epileptic patterns on EEG.

Geneticists are most interested in idiopathic generalized epilepsy. When they never identify metabolic or structural disorders.
Apparently, idiopathic generalized epilepsy has a genetic basis. From a genetic point of view, epilepsy can be divided into monogenic diseases, diseases with hereditary predisposition and diseases, in whose etiology a significant role is played, possibly, by hereditary factors, consequences of injuries, brain ischemia (however, in these cases the influence of hereditary factors cannot be excluded).

Formal genetic approaches reveal 5 monogenically inherited forms among idiopathic generalized epilepsy: benign familial convulsions of newborns, generalized epilepsy with febrile convulsions, frontal epilepsy with nocturnal paroxysms, partial epilepsy with hearing impairment, benign familial infantile convulsions, benign familial epanthropic convulsions, partial epilepsy with hearing impairment, benign familial infantile paroxysms Although each of these diseases is rare, their study is of great importance for understanding the nature of epilepsy. With monogenic forms, positional mapping technology is extremely effective. In most cases, you can set the genes, mutation in which leads to the occurrence of the disease.

Also known metabolic diseases and systemic anomalies of histogenesis, inherited by the Mendelian law. The leading clinical syndrome is epileptic seizures.

However, most forms of epilepsy are not monogenic. In juvenile myoclonic, pediatric absans and rolandic epilepsy, inheritance is more complex. Generally, idiopathic generalized epilepsy is characterized by familial accumulation, which suggests a significant role for genetic factors. Genetic analysis allows making a choice in favor of the multifactorial nature of the disease (a combination of genetic and environmental factors). In this regard, in cases where the classical Mendelian inheritance is not observed, it is often considered that there is a complex inheritance, without describing the inheritance model.

The pedigree of patients with epilepsy is often saturated with close, phenotypically similar, but not identical conditions. This testifies to the instability of the functional state of the brain, which allows some authors to conclude that there is a genetic predisposition that determines a special state of the brain - “paroxysmal brain” (according to A. M. Wein).

Idiopathic forms of epilepsy generally relate to benign forms. However, in some cases, the attacks are resistant to basic anticonvulsants. The treatment is not effective enough in such forms as juvenile absans epilepsy, epilepsy with myoclonic absans, epilepsy with myoclonic-astatic seizures (the latter two forms are often referred to as cryptogenic generalized epilepsy).
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  1. Epilepsy classification
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