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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Hlavní autoři:	E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko
Médium:	Artigo
Jazyk:	Russo
Vydáno:	IRBIS LLC 2022-10-01
Edice:	Эпилепсия и пароксизмальные состояния
Témata:	juvenile myoclonic epilepsy genetic generalized epilepsy gene whole exome sequencing pathogenic variant
On-line přístup:	https://www.epilepsia.su/jour/article/view/821
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