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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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4609934/
https://ncbi.nlm.nih.gov/pubmed/26477325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep15199
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