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Case Report: A Novel CACNA1A Mutation Caused Flunarizine-Responsive Type 2 Episodic Ataxia and Hemiplegic Migraine With Abnormal MRI of Cerebral White Matter

Episodic ataxia type 2 (EA2) is one autosomal-dominant neurological disorder characterized by debilitating attacks of ataxia. It is mainly caused by loss-of-function mutations of the CACNA1A gene, which encodes the pore-forming α1A subunit of Ca(v)2.1 (P/Q type voltage-gated calcium channel). Sporad...

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Detalles Bibliográficos
Autores principales: Yuan, Xiaoqiu, Zheng, Yiming, Gao, Feng, Sun, Wei, Wang, Zhaoxia, Zhao, Guiping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9168224/
https://www.ncbi.nlm.nih.gov/pubmed/35677330
http://dx.doi.org/10.3389/fneur.2022.899813

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