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: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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.
STXBP1 e.V.
STXBP1 Research Support and Awareness in Germany - attempt European networking
Genetic Epilepsy Team Australia
Collaboration of research and care
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.