Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders

BACKGROUND: Pathogenic KCNA1 variants have been linked to episodic ataxia type 1 (EA1), a rare neurological syndrome characterized by continuous myokymia and attacks of generalized ataxia that can be triggered by fever, abrupt movements, emotional stress, and fatigue. Currently, over 40 KCNA1 varian...

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Detalles Bibliográficos
Autores principales: Yuan, Haiming, Yuan, Huihua, Wang, Qingming, Ye, Wanhua, Yao, Ruixia, Xu, Wanfang, Liu, Yanhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549609/
https://www.ncbi.nlm.nih.gov/pubmed/32705822
http://dx.doi.org/10.1002/mgg3.1434

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549609/
https://www.ncbi.nlm.nih.gov/pubmed/32705822
http://dx.doi.org/10.1002/mgg3.1434

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