Searching for causes of severe childhood epilepsy with advanced genetic testing
Part of Brain & nervous system clinical trials.
This study uses a newer, more detailed type of genetic testing (long-read genome sequencing) to look for the cause of severe childhood epilepsy and developmental delays when standard testing has found nothing. The goal is to find answers for families who have gone without a diagnosis.
Summary written for real people, not researchers, by Clin2.
Who can take part
- Child is under 18 years old.
- Has a diagnosis of developmental and epileptic encephalopathy (severe seizures with developmental delays).
- Standard genetic testing (whole genome sequencing) did not find the cause.
- A stored DNA sample is available at a participating center.
- Brain MRI shows no signs of oxygen loss around birth.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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