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 April 2024
Newly diagnosed with
STXBP1-related encephalopathy?
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Advocacy Organizations
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.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.