STXBP1-related encephalopathy

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STXBP1-related encephalopathy

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: // Data version September 2023.

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STXBP1-related encephalopathy?

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Advocacy Organizations

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.

Clinical Trials

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