Articles with "haplodeficiency excitatory" as a keyword



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

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Published in 2018 at "Communications Biology"

DOI: 10.1038/s42003-018-0099-2

Abstract: 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… read more here.

Keywords: excitatory neurons; excitatory; absence like; haplodeficiency excitatory ... See more keywords