Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes

BACKGROUND: KCNC1 encodes Kv3.1, a subunit of the Kv3 voltage-gated potassium channels. It is predominantly expressed in inhibitory GABAergic interneurons and cerebellar neurons. Kv3.1 channelopathy has been linked to a variety of human diseases including epilepsy, developmental delay, and ataxia. C...

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Detalles Bibliográficos
Autores principales: Li, Xiaoyang, Zheng, Yongsheng, Li, Shaoyuan, Nair, Umesh, Sun, Chong, Zhao, Chongbo, Lu, Jiahong, Zhang, Victor Wei, Maljevic, Snezana, Petrou, Steven, Lin, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8506712/
https://www.ncbi.nlm.nih.gov/pubmed/34733949
http://dx.doi.org/10.21037/atm-21-1885

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