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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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發表在:Sci Rep
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2015
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在線閱讀: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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