Researchers Provide Complete Clinical Landscape for Major Gene Linked to Epilepsy and Autism
Children's Hospital of PhiladelphiaResearchers have compiled a complete genetic and clinical analysis of more than 400 individuals with SCN2A-related disorder, which has been linked to a variety of neurodevelopmental disorders, including epilepsy and autism. By linking clinical features to genetic abnormalities in a standardized format, the researchers hope their findings lead to improved identification and clinical intervention.