Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy

K(v)7 channels are enriched at the axonal plasma membrane where their voltage-dependent potassium currents suppress neuronal excitability. Mutations in K(v)7.2 and K(v)7.3 subunits cause epileptic encephalopathy (EE), yet the underlying pathogenetic mechanism is unclear. Here, we used novel statisti...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Jiaren, Kim, Eung Chang, Chen, Congcong, Procko, Erik, Pant, Shashank, Lam, Kin, Patel, Jaimin, Choi, Rebecca, Hong, Mary, Joshi, Dhruv, Bolton, Eric, Tajkhorshid, Emad, Chung, Hee Jung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7075958/
https://www.ncbi.nlm.nih.gov/pubmed/32179837
http://dx.doi.org/10.1038/s41598-020-61697-6

Ejemplares similares

Ejemplares similares