A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe intellectual disability developmental delay and in the majority of cases early-onset epilepsy. The most frequent seizure type are epileptic spasms but a broad spectrum of seizure types has been reported. Motor disturbances include ataxia hypotonia dystonia tremor spasticity and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism including tremor bradykinesia and antecollis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2026
Newly diagnosed with
STXBP1-related encephalopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
STXBP1 Australia
to fund and drive research in Australia and internationally into STXBP1 disorders, to accelerate the discovery of a treatment/cure for STXBP1 disorders and to enable patients of STXBP1 disorders to participate in therapeutic trials to find a treatment/cure for STXBP1 disorders;
STXBP1 Foundation
Create awareness in the disorders associated with STXBP1 mutations. Fund and drive research to accelerate discovery of a cure. Provide families with tools to help them understand the disease & how to get involved. Advocate to improve early detection. Foster activism to help change policies in favor of orphaned diseases. Improve the lives of our STXBP1 Family.
STXBP1 e.V.
STXBP1 Research Support and Awareness in Germany - attempt European networking
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Clinical Trials
For a list of clinical trials in this disease area, please click here.