STXBP1-Encephalopathy: a multifaceted cohort study into the clinical, electroencephalographical and cellular profile of STXBP1-E patients
Recruiting
- Conditions
- Early infantile encephalopathyintellectual disability and developmental delay10029299
- Registration Number
- NL-OMON48953
- Lead Sponsor
- Functionele Genoomanalyse, Klinische Genetica
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 25
Inclusion Criteria
Identified mutation in the STXBP1-gene
Exclusion Criteria
Severe language barrier that is likely to hinder the procedure of informed consent.
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method