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CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY

https://doi.org/10.17749/2077-8333.2016.8.2.020-036

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Abstract

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.

About the Authors

N. A. Shnayder
Krasnoyarsk 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 Research
Russian Federation

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



O. S. Shilkina
Krasnoyarsk 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 Research
Russian Federation

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



K. V. Petrov
Krasnoyarsk State Medical University named after Prof. V. F. Voyno-Yasenetsky of the Health Ministry of Russia
Russian Federation

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

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



I. A. Chernykh
Krasnoyarsk State Medical University named after Prof. V. F. Voyno-Yasenetsky of the Health Ministry of Russia
Russian Federation

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

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



A. V. Diuzhakova
Krasnoyarsk State Medical University named after Prof. V. F. Voyno-Yasenetsky of the Health Ministry of Russia
Russian Federation

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

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



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For citation:


Shnayder N.A., Shilkina O.S., Petrov K.V., Chernykh I.A., Diuzhakova A.V. CLINICAL AND GENETIC HETEROGENITY OF JUVENILE MYOCLONIC EPILEPSY. Epilepsy and paroxysmal conditions. 2016;8(2):20-36. (In Russ.) https://doi.org/10.17749/2077-8333.2016.8.2.020-036

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ISSN 2311-4088 (Online)