Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype-Reference-Cited by-同舟云学术

Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype

Published:2022-10 Issue: Volume:101 Page:109-116
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Fang Zhixu,Xie Lingling,Li Xue,Gui Jianxiong,Yang Xiaoyue,Han Ziyao,Luo Hanyu,Huang Dishu,Chen Hengsheng,Cheng Li,Jiang Li

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference50 articles.

1. Voltage-gated sodium channels at 60: structure, function and pathophysiology;Catterall;J Physiol,2012

2. Sodium channel SCN1A and epilepsy: mutations and mechanisms;Escayg;Epilepsia,2010

3. Tracking voltage-dependent conformational changes in skeletal muscle sodium channel during activation;Chanda;J Gen Physiol,2002

4. A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?;Passamonti;Epilepsy Behav,2015

5. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome;Brunklaus;Brain,2012

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