epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333.2016.8.2.020-036epilepsia-231Research ArticleSCIENTIFIC SURVEYSНАУЧНЫЕ ОБЗОРЫCLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSYКЛИНИКО-ГЕНЕТИЧЕСКАЯ ГЕТЕРОГЕННОСТЬ ЮНОШЕСКОЙ МИОКЛОНИЧЕСКОЙ ЭПИЛЕПСИИШнайдерН. А.ShnayderN. A.

д.м.н., профессор, заведующая кафедрой медицинской генетики и клинической нейрофизиологии ИПО, руководитель неврологического центра эпилептологии, нейрогенетики и исследования мозга Университетской клиники,

ул. Партизана Железняка, 1, г. Красноярск, Красноярский край, Сибирский федеральный округ, 660022

MD, D. Med. Sci., Prof., head of the Department of Medical Genetics and Clinical Neurophysiology of the Postgraduate Education Institute, head of the Neurological Center of Epileptology, Neurogenetics and Brain Research,

ul. Partizana Zheleznyaka, 1, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, 660022

nataliashnayder@gmail.comШилкинаО. С.ShilkinaO. S.

аспирант кафедры медицинской генетики и клинической нейрофизиологии ИПО, врач невролог неврологического центра эпилептологии, нейрогенетики и исследования мозга Университетской клиники,

ул. Партизана Железняка, 1, г. Красноярск, Красноярский край, Сибирский федеральный округ, 660022

MD, researcher of the Department of Medical Genetics and Clinical Neurophysiology of the Postgraduate Education Institute, neurologists of the Neurological Center of Epileptology, Neurogenetics and Brain Research,

ul. Partizana Zheleznyaka, 1, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, 660022

olgabbn@mail.ruПетровК. В.PetrovK. V.

студент 3 курса педиатрического факультета, студенческое научное общество кафедры медицинской генетики и клинической нейрофизиологии ИПО,

ул. Партизана Железняка, 1, г. Красноярск, Красноярский край, Сибирский федеральный округ, 660022

medical student of 3rd course of pediatric faculty, student`s scientific society,

ul. Partizana Zheleznyaka, 1, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, 660022

kirya23petrov@mail.ruЧерныхИ. А.ChernykhI. A.

студентка 2 курса педиатрического факультета, студенческое научное общество кафедры медицинской генетики и клинической нейрофизиологии ИПО,

ул. Партизана Железняка, 1, г. Красноярск, Красноярский край, Сибирский федеральный округ, 660022

medical student of 2d course of pediatric faculty, student`s scientific society,

ul. Partizana Zheleznyaka, 1, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, 660022

chkgbcrew@mail.ruДюжаковаА. В.DiuzhakovaA. V.

студентка 5 курса лечебного факультета, ИПО,

ул. Партизана Железняка, 1, г. Красноярск, Красноярский край, Сибирский федеральный округ, 660022

medical student of 5th course of therapeutic faculty, student`s scientific society,

ul. Partizana Zheleznyaka, 1, Krasnoyarsk, Krasnoyarsk region, Siberian Federal District, 660022

humsterzoa@gmail.comГБОУ ВПО Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого Минздрава России; Университетская клиника, неврологический центр эпилептологии, нейрогенетики и исследования мозгаРоссияKrasnoyarsk State Medical University named after Prof. V. F. Voyno-Yasenetsky of the Health Ministry of Russia; University Clinic, Neurological Center of Epileptology, Neurogenetics and Brain ResearchRussian FederationГБОУ ВПО Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого Минздрава РоссииРоссияKrasnoyarsk State Medical University named after Prof. V. F. Voyno-Yasenetsky of the Health Ministry of RussiaRussian Federation201631082016822036Copyright © Shnayder N.A., Shilkina O.S., Petrov K.V., Chernykh I.A., Diuzhakova A.V., 20162016Шнайдер Н.А., Шилкина О.С., Петров К.В., Черных И.А., Дюжакова А.В.Shnayder N.A., Shilkina O.S., Petrov K.V., Chernykh I.A., Diuzhakova A.V.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/231

The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latter occurring in more than one-third of the patients. However, typical absences are not the predominant seizure type, and are usually very mild and simple (with no automatisms or localized limb jerks). Juvenile myoclonic epilepsy usually appears in adolescents between 12 and 18 years old. Half of patients with this condition have relatives with epilepsy. The genetic basis of this syndrome is complex and the mechanism of transmission is unclear. It is possible that several different genes are responsible. The authors presented the review of results modern clinical and genetic studies of juvenile myoclonic epilepsy. Information obtained from this review strongly suggests a heritable condition that merits further investigation.

Идиопатические генерализованные эпилепсии составляют примерно одну треть всех эпилепсий. Юношеская миоклоническая эпилепсия (ЮМЭ, синдром Янца) характеризуется миоклониями при пробуждении, генерализованными тонико-клоническими приступами и типичными абсансами, последние встречаются более чем у одной трети пациентов. Тем не менее, типичные абсансы не являются преобладающим типом приступов. Юношеская миоклоническая эпилепсия обычно развивается у подростков в возрасте от 12 до 18 лет. Половина пациентов с этим заболеванием имеют родственников, страдающих эпилепсией. Генетическая основа этого синдрома является сложной, а механизм наследования неясен. Вполне возможно, что за развитие ЮМЭ ответственны несколько различных генов. Авторы представили обзор результатов современных клинических и генетических исследований юношеской миоклонической эпилепсии. Информация, полученная в результате этого обзора, наводит на мысль, что данное наследственное заболевание заслуживает дальнейшего изучения.

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