Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia-Reference-Cited by-同舟云学术

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Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

Published:2024-08 Issue:8 Volume:51 Page:801-810
ISSN:1673-8527
Container-title:Journal of Genetics and Genomics
language:en
Short-container-title:Journal of Genetics and Genomics

Author:

Sun Wan-Bing,Fu Jing-Xin^ORCID,Chen Yu-Lan,Li Hong-Fu,Wu Zhi-Ying^ORCID,Chen Dian-Fu^ORCID

Funder

Zhejiang University

National Natural Science Foundation of China

Publisher

Elsevier BV

Reference31 articles.

1. Action potential broadening in a presynaptic channelopathy;Begum;Nat. Commun.,2016

2. Conformational dynamics of shaker-type Kv1.1 ion channel in open, closed, and two mutated states;Bhuyan;J. Membr. Biol.,2015

3. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families;Browne;Hum. Mol. Genet.,1995

4. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1;Browne;Nat. Genet.,1994

5. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria;Bruno;Neurology,2004

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