Pediatrics

CHOP Researchers Use Novel Tool to Mine Clinical Data and Identify Causative Gene in Severe Childhood Epilepsy

A team of researchers discovered a new gene associated with severe childhood epilepsy using a novel computational approach. The team systematically compared phenotypes, or clinical data, of patients with severe childhood epilepsies through a novel analysis strategy and looked for common genetic causes in patients who had similar clinical presentations. This is the first time that such an analysis of clinical data has been used to identify novel genetic causes of neurological disorders, and this new computational method has the potential to help patients with a variety of complex and difficult-to-diagnose conditions.

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