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