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STXBP1

—Syntaxin Binding Protein 1

Chromosome: 9

Location: 9:127579370-127696027

OMIM: 602926

Ensembl: ENSG00000136854

Official·OMIM:602926 Official·ENSG00000136854

Encodes synaptic vesicle fusion protein. Mutations cause early infantile epileptic encephalopathy.

Treatment Roadmap — STXBP1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

STXBP1 Encephalopathy

Autosomal DominantPrevalence: 1/100000neurological

Official·OMIM:612164 Official·ORPHA599373

Summary

Clinical Trial

Approved Therapy

Registered Variant