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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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Online dostop: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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