De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental d...

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Detalles Bibliográficos
Autores principales: Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609934/
https://www.ncbi.nlm.nih.gov/pubmed/26477325
http://dx.doi.org/10.1038/srep15199

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609934/
https://www.ncbi.nlm.nih.gov/pubmed/26477325
http://dx.doi.org/10.1038/srep15199

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