Article

Glutamatergic and GABAergic neurons mediate distinct neurodevelopmental phenotypes of <i>STXBP1</i> encephalopathy

2021-07-13

Abstract excerpt

Heterozygous pathogenic variants in syntaxin-binding protein 1 (STXBP1, also known as MUNC18-1) cause STXBP1 encephalopathy and are among the most frequent causes of developmental and epileptic encephalopathies and intellectual disabilities. STXBP1 is an essential protein for presynaptic neurotransmitter release, and its haploinsufficiency impairs glutamatergic and GABAergic neurotransmission. However, the mechan...

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Literature Corpus work: 7d3b443e-f669-5fa8-8a9f-996180b43453
DOI: 10.1101/2021.07.13.452234

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