STXBP1-related encephalopathy

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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 Data version July 2024

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STXBP1-related encephalopathy?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.