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Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy

Mutations in the KCNQ2 gene encoding K(V)7.2 subunit that mediates neuronal M-current cause a severe form of developmental and epileptic encephalopathy (DEE). Electrophysiological evaluation of KCNQ2 mutations has been proved clinically useful in improving outcome prediction and choosing rational an...

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Detalles Bibliográficos
Autores principales:	Yang, Gui-mei, Tian, Fu-yun, Shen, Yan-wen, Yang, Chuan-yan, Yuan, Hui, Li, Ping, Gao, Zhao-bing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Nature Singapore 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10374643/ https://www.ncbi.nlm.nih.gov/pubmed/36932231 http://dx.doi.org/10.1038/s41401-023-01073-y

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