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...

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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

Internet

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

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