Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice

Mutations in the SCN2A gene encoding a voltage-gated sodium channel Nav1.2 are associated with epilepsies, intellectual disability, and autism. SCN2A gain-of-function mutations cause early-onset severe epilepsies, while loss-of-function mutations cause autism with milder and/or later-onset epilepsie...

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Published in:Commun Biol
Main Authors: Ogiwara, Ikuo, Miyamoto, Hiroyuki, Tatsukawa, Tetsuya, Yamagata, Tetsushi, Nakayama, Tojo, Atapour, Nafiseh, Miura, Eriko, Mazaki, Emi, Ernst, Sara J., Cao, Dezhi, Ohtani, Hideyuki, Itohara, Shigeyoshi, Yanagawa, Yuchio, Montal, Mauricio, Yuzaki, Michisuke, Inoue, Yushi, Hensch, Takao K., Noebels, Jeffrey L., Yamakawa, Kazuhiro
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6115194/
https://ncbi.nlm.nih.gov/pubmed/30175250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s42003-018-0099-2
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