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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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Dettagli Bibliografici
Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
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Accesso online: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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