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Mutations in the synaptic machinery gene syntaxin-binding protein 1,  STXBP1  (also known as  MUNC18-1 ), are linked to childhood epilepsies and other neurodevelopmental disorders. Zebrafish  STXBP1  homologs ( stxbp1a  and  stxbp1b ) have highly conserved sequence and are prominently expressed in the larval zebrafish brain. To understand the functions of  stxbp1a  and  stxbp1b , we generated loss-of-function mutations using CRISPR/Cas9 gene editing and studied brain electrical activity, behavior, development, heart physiology, metabolism, and survival in larval zebrafish. Homozygous  stxbp1a  mutants exhibited a profound lack of movement, low electrical brain activity, low heart rate, decreased glucose and mitochondrial metabolism, and early fatality compared to controls. On the other hand, homozygous  stxbp1b  mutants had spontaneous electrographic seizures, and reduced locomotor activity response to a movement-inducing “dark-flash” visual stimulus, despite showing normal metabolism, heart rate, survival, and baseline locomotor activity. Our findings in these newly generated mutant lines of zebrafish suggest that zebrafish recapitulate clinical phenotypes associated with human syntaxin-binding protein 1 mutations.

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish