STXBP1 Disorders/Foundation

Philadelphia,  PA 
United States
http://stxdisorders.org
  • Booth: T-02

STXBP1 is located on chromosome 9q34.1. Symptoms include the following: epilepsy, global delay, cognitive impairment , Autism, movement disorders, and Cerebral Palsy. STXBP1 changes impair the vesicle release of neurotransmitters along the synapses. STXBP1 is one of the five most common genes for epileptic encephalopathies and related neurodevelopmental disorders.

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