Natural history study for genetic epilepsy and developmental delays
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study follows children and adults with genetic conditions that cause severe epilepsy and developmental delays (DEE), including those with MEF2C mutations. It aims to better understand these disorders and prepare for future clinical trials. You or your child can join in person (travel to NYC), virtually (online), or by filling out a registry.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a confirmed genetic condition that causes Developmental and Epileptic Encephalopathy (DEE).
- You or your child must have epilepsy or developmental delay.
- For the in-person group: be willing to travel to New York City four times over two years (ages 0–15 if MEF2C, any age for other DEE).
- For the virtual group: have internet access for video calls and commit to filling out all online surveys.
- For the registry: just one online survey, no travel needed.
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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