Article

<i>Stxbp1/Munc18-1</i> haploinsufficiency in mice recapitulates key features of <i>STXBP1</i> encephalopathy and impairs cortical inhibition

2019-04-29

Abstract excerpt

Mutations in genes encoding synaptic proteins cause many neurodevelopmental disorders, but the underlying pathogeneses are poorly understood. Syntaxin-binding protein 1 (STXBP1) is an essential component of the neurotransmitter release machinery. Its de novo heterozygous mutations are among the most frequent causes of neurodevelopmental disorders including intellectual disabilities and epilepsies. These disorders...

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Literature Corpus work: 9806de26-3f77-5549-be6c-3d01f2c0559b
DOI: 10.1101/621516

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