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Updated: May 21, 2025

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
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双性SCN1A变体具有不同的现型

Rowan Pentz1, Rebecca Hough2, Chumei Li3

  • 1The Division of Neurology, Department of Pediatrics, McMaster University, Hamilton, ON, Canada.

Seizure
|March 22, 2025
PubMed
概括

罕见的同卵性SCN1A变体可以导致各种综合征,包括德拉维特综合征和GEFS+. 这些病例显示出比以前理解的更广泛的范围,不同影响神经发育和控制.

关键词:
自体逆行性自体逆行性发育性和性脑病变,发育性和性脑病变.德拉维特综合征是什么?德拉维特综合征是什么是一种病.遗传性与发烧性发作加 (GEFS+) 发生.这种类型是 homozygous 的.这就是SCN1A.

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