Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

ABSTRACT: Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms. We therefore used whole exome sequencing (WES) to search for potentially pathogenic somatic DNA variants in brain samples from children with lesional epilepsy who underwent epilepsy surgery. WES was performed on 20 paired DNA samples extracted from both lesional brain tissue and reference tissue from the same patient, such as leukocytes or fibroblasts. The paired WES data were jointly analyzed usin

SUBMITTER: Schwarz JM 

PROVIDER: S-EPMC11766355 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature