epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333.2020.12.1S.S41-S49epilepsia-548Research ArticleEVENTSСОБЫТИЯJuvenile Myoclonic Epilepsy. UpdateЮвенильная миоклоническая эпилепсия. Обновление представленийhttps://orcid.org/0000-0002-7816-7535ВолковИ. В.VolkovI. V.

Волков Иосиф Вячеславович – к. м.н., невролог-эпилептолог

ул. Мичурина, д. 37,  Новосибирск 630096

Iosif V. Volkov – MD, PhD, neurologist-epileptologist

37 Michurina Str., Novosibirsk 630096

viv114476@mail.ruhttps://orcid.org/0000-0003-3314-3895ВолковаО. К.VolkovaO. K.

Волкова Оксана Константиновна – невролог-эпилептолог

ул. Мичурина, д. 37,  Новосибирск 630096; Красный проспект, д. 3, Новосибирск 630007

Oksana K. Volkova – MD, neurologist-epileptologist

37 Michurina Str., Novosibirsk 630096

ООО «Городской Неврологический Центр «Сибнейромед»РоссияThe Novosibirsk City Neurology Center “Sibneiromed”Russian FederationООО «Городской Неврологический Центр «Сибнейромед»; Государственное бюджетное учреждение здравоохранения Новосибирской области «Городская детская клиническая больница скорой медицинской помощи»РоссияThe Novosibirsk City Neurology Center “Sibneiromed”; Novosibirsk Region City Children Emergency Clinical HospitalRussian Federation202028072020121SS41-S49Copyright © Volkov I.V., Volkova O.K., 20202020Волков И.В., Волкова О.К.Volkov I.V., Volkova O.K.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/548

Juvenile myoclonic epilepsy (JME) is a common disease. However, some aspects of etiology and pathogenesis are not yet fully clarified. This publication describes the development of ideas about JME, the types of seizures that occur in JME, provides a list of triggering factors and a prognosis severity scale that depending on these triggering factors. The section on JME diagnostics discusses methods of neuroimaging, electroencephalography, and approaches to assessing the mental status of JME patients. The data of meta-analysis of prevalence and risk factors of refractory JME in the context of assessment of the disease state and prognosis are presented. The data on advantages and disadvantages of various Antiepileptic Drugs (AEDs) for the control of the disease are considered. The results of the own study of AED spectrum and effectiveness in gender-sensitive and ILAE-recommended therapy in adults, as well as the GENERAL study of perampanel efficacy and safety in patients with idiopathic generalized epilepsy, are presented. It confirmed the high efficacy of the perampanel primarily for  myoclonic seizures and generalized tonic-clonic seizures. A case study of a female patient with JME was also described, in which refractory to therapy was noted, including due to low compliance to the prescribed therapy.

Ювенильная миоклоническая эпилепсия (ЮМЭ) – достаточно распространенное заболевание. Тем не менее многие аспекты этиологии, патогенеза еще остаются не до конца проясненными. В данной публикации изложено развитие представлений о ЮМЭ, описаны типы приступов, которые имеют место при ЮМЭ, приведен перечень провоцирующих факторов и шкала тяжести прогноза в зависимости от этих провоцирующих факторов. В разделе, посвященном диагностике ЮМЭ, обсуждаются методы нейровизуализации, электроэнцефалографии и подходы к оценке психического статуса больных ЮМЭ. Представлены данные метаанализа распространенности и факторов риска рефрактерной ЮМЭ в контексте оценки течения и прогноза заболевания. Рассмотрены данные о преимуществах и недостатках различных антиэпилептических препаратов (АЭП) для контроля данного заболевания. Приведены результаты собственного исследования спектра АЭП и эффективности терапии у взрослых с учетом гендерных особенностей и рекомендаций ILAE, а также исследования эффективности и безопасности перампанела у пациентов с идиопатической генерализованной эпилепсией GENERAL, подтвердившие высокую эффективность перампанела прежде всего в отношении миоклонических приступов и генерализованных тонико-клонических приступов. Также описан клинический случай пациентки с ЮМЭ, в котором отмечена рефрактерность к терапии, в т. ч. вследствие невысокой комплаентности к назначенной терапии.

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