epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333.2019.11.2.187-194epilepsia-478Research ArticleCLINICAL CASESКЛИНИЧЕСКИЕ СЛУЧАИEvolution of genetically determined generalized epilepsiesФакторы эволюции генетических генерализованных эпилепсийhttps://orcid.org/0000-0003-3794-215XМорозоваЕ. А.MorozovaE. A.

Морозова Елена Александровна - доктор медицинских наук, профессор кафедры детской неврологии.

Ул. Муштари, д. 11, Казань 420061

Elena A. Morozova - MD, Professor at the Department of Pediatric Neurology.

11 Mushtari Str., Kazan 420061

ratner@bk.ruГусяковФ. И.GusyakovF. I.

Гусяков Филипп Игоревич - врач-невролог ГАУЗ «Детская городская больница №8» Казани.

Ул. Галеева, д. 11, Казань 420061

Filipp I. Gusyakov- MD, Neurologist.

11 Galeeva Str., Kazan 420061

Казанская государственная медицинская академия - филиал федерального государственного бюджетного образовательного учреждения дополнительного профессионального образования «Российская медицинская академия непрерывного профессионального образования» Министерства здравоохранения Российской ФедерацииРоссияKazan State Medical Academy - branch of the Federal state budgetary educational institution of additional professional education “Russian medical Academy of continuous professional education” of the Ministry of health of the Russian FederationRussian FederationГосударственное автономное учреждение здравоохранения Детская городская больница № 8РоссияChildren’s City Hospital № 8Russian Federation201905072019112187194Copyright © Morozova E.A., Gusyakov F.I., 20192019Морозова Е.А., Гусяков Ф.И.Morozova E.A., Gusyakov F.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/478

This article analyzes the available literature regarding the clinical manifestations, genetic determinants, prognosis and evolution of inherited generalized epilepsies. We describe the typical EEG characteristics and their correlations with negative prognostic factors. We also review studies on absence epilepsy of childhood, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures. Factors indicating a more severe course and outcome of the disease, and those indicating a more favorable development have been analyzed. Among those, age of the seizure onset, type of initial therapy, time passed before starting therapy and time before a response was seen, cognitive status, combination of seizures, abnormal discharges in EEG, and neurological deficit. The analysis shows that factors correlating with poor prognosis include the presence of more than one type of seizures, insufficient response to initial therapy, necessity of polytherapy and concomitant cognitive impairment.

В статье проанализированы литературные данные, касающиеся клиники, генетических детерминант, прогноза и эволюции генетических генерализованных эпилепсий и характерных для них электроэнцефалографических коррелятов с целью определения негативных прогностических факторов. Приведены результаты исследований детской абсансной эпилепсии, юношеской миоклонической эпилепсии и эпилепсии с изолированными генерализованными тонико-клоническими приступами. Выявлены факторы, способствующие как более тяжелому течению и исходам данных форм заболевания, так и указывающие на ожидаемо более благоприятное развитие: такие как возраст дебюта, вид инициальной терапии, сроки до начала инициальной терапии и сроки до ответа на нее, когнитивный статус, комбинация приступов, патологические изменения электроэнцефалограммы, наличие неврологического дефицита. Проведенный анализ показал, что к факторам, достоверно ухудшающим прогноз, относятся наличие более одного типа приступов, отсроченный ответ на стартовую терапию, политерапия и сопутствующие когнитивные нарушения.

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The authors declare that there are no conflicts of interest present.