Whole-exome sequencing of patients with juvenile myoclonic epilepsy

Whole-exome sequencing of patients with juvenile myoclonic epilepsy

Background. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy with onset in adolescence and adulthood. During medical genetic counseling in probands with JME, aggravated epilepsy-related heredity is often detected. However, specific genetic variants of JME...

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Bibliographic Details
Main Authors: E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko
Format: Article
Language:Russian
Published: IRBIS LLC 2022-10-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
juvenile myoclonic epilepsy
genetic generalized epilepsy
gene
whole exome sequencing
pathogenic variant
Online Access:https://www.epilepsia.su/jour/article/view/821
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