STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

Abstract excerpt

STXBP1 encodes syntaxin-binding protein 1, a brain-expressed membrane trafficking protein that facilitates presynaptic vesicle docking in neurotransmission. Heterozygous loss-of-function variants were originally associated with infantile developmental and epileptic encephalopathy (DEE4, OMIM #612164),1 with the phenotype later expanding to include a wide range of severe epilepsies, intellectual disability, and...

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