Study to Identify Genes Linked to Epilepsy, Brain Malformations, and Cognitive Disorders in Adults and Children

What this Trial Is About

Researchers are investigating genes responsible for epilepsy, brain malformations, and disorders affecting human cognition. This study aims to identify genetic factors involved in conditions such as polymicrogyria, lissencephaly, pachygyria, heterotopias, microcephaly, cerebellar hypoplasia, familial intellectual disability, and familial autism. These conditions often coexist with epilepsy and are diagnosed using brain MRI or CT scans. The study focuses on understanding the genetic basis of these disorders by comparing DNA from affected individuals and families to that of the general population. Participants include adults and children diagnosed with brain malformations or cognitive disorders such as familial intellectual disability or autism. Family members of affected individuals are also invited to participate. This observational study collects genetic data to help identify and characterize genes important in normal brain development and related abnormalities. There are no experimental treatments or interventions involved. During the study, participants provide genetic samples and share medical information related to their condition. Researchers analyze these samples to discover genetic links to the studied conditions. The primary outcome is the ongoing identification and characterization of genes linked to brain development and malformations. Participants remain under their usual care throughout the study, which may continue for several years as the research progresses.

Human Epilepsy Genetics--Neuronal Migration Disorders Study