Article

Heterozygous and homozygous variants in <i>STX1A</i> cause a neurodevelopmental disorder with or without epilepsy

2022-04-21

Abstract excerpt

The neuronal SNARE complex drive synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders. We assembled eight individuals harboring rare variants in STX1A who present with a spectrum of intellectual, autism and epilepsy. Causative variants comprise a homozygous splice variant, three de novo missense variants and two...

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Literature Corpus work: 641c1592-7ee2-5c4c-a828-bcc40ddb24d6
DOI: 10.1101/2022.04.20.22274073

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