A Novel SCN1A Mutation Associated With Reflex Seizures Induced by Movements

被引：0

作者：

Gong, Chao ^{[1
]}

Li, Qing ^{[1
]}

Li, Xuemei ^{[1
]}

Yu, Xiaoli ^{[1
]}

Li, Dong ^{[1
]}

机构：

[1] Tianjin Childrens Hosp, Dept Neurol, Tianjin, Peoples R China

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 10期

关键词：

gain-of-function; scn1a mutation; genetics; movement-induced reflex epilepsy; seizures;

D O I：

10.7759/cureus.46702

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 14-year-old male patient was admitted to the hospital due to epileptic seizures, which occurred at the beginning of running exercise after being stopped and fast walking. Seizures were consistently characterized by a dystonic posture of the distal portion of the left arm-flexed and adducted by the chest without loss of consciousness. We suspected that this was movement-induced reflex epilepsy and performed whole exome sequencing. Whole exome sequencing revealed a novel SCN1A missense mutation, c.5549T>G (p.Ile1850Ser). SCN1A mutations have not been reported in patients with reflex epilepsy induced by movement. This report enriches the genotypes and phenotypes of SCN1A-related epilepsy and provides further insight into the etiology of reflex epilepsy induced by movement.

引用

页数：4

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