Genetic Factors of Reflex Epilepsies

被引：0

作者：

Dudko, N. A. ^{[1
,2
]}

Kunizheva, S. S. ^{[1
,2
,3
]}

Andreeva, T. V. ^{[1
,2
,3
]}

Adrianova, I. Y. ^{[2
]}

Rogaev, E. I. ^{[1
,3
,4
]}

机构：

[1] Sirius Univ Sci & Technol, Ctr Genet & Life Sci, Pgt Sirius 354340, Krasnodar Krai, Russia

[2] Russian Acad Sci, Vavilov Inst Gen Genet, Moscow 119991, Russia

[3] Moscow MV Lomonosov State Univ, Ctr Genet & Genet Technol, Moscow 119234, Russia

[4] UMass Chan Med Sch, Dept Psychiat, Worcester, MA 01545 USA

来源：

RUSSIAN JOURNAL OF GENETICS | 2023年 / 59卷 / 10期

基金：

俄罗斯科学基金会;

关键词：

reflex epilepsy; genetic factors; audiogenic seizures; photosensitivity; hot water epilepsy; AUTOSOMAL-DOMINANT; EPILEPTIC SEIZURES; RARE FORM; MUTATIONS; PHOTOSENSITIVITY; PREVALENCE; DEFINITION; VARIANTS; PROTEIN; STRAIN;

D O I：

10.1134/S1022795423100046

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Reflex epilepsy is a relatively rare form of epilepsy, occurring only in five percent of all cases of this disease. The genetic factors of reflex epilepsy are diverse and, in general, poorly studied. This review examines the main results obtained in recent years in the study of molecular genetic factors of reflex epilepsy, including new data on the mechanisms of genetic regulation in reflex epilepsy caused by triggers such as audio and video stimulation, food consumption, reading, contact with water, and hypoxia. The results obtained in studies on animal models and patients using next-generation sequencing technology are presented.

引用

页码：991 / 1003

页数：13

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