[HTML][HTML] Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

J Luppe, H Sticht, F Lecoquierre… - European Journal of …, 2023 - nature.com
The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core
proteins syntaxin 1A (STX1A) has long been suspected to play a role in …