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

Internet

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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