Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

ABSTRACT: Focal Cortical Dysplasia Type II (FCDII) is a subtype of cortical malfunction and is the primary cause of drug-resistant epilepsy in children. Although somatic mosaicism and clonal expansion of brain cells have been identified as crucial factors in FCD cases, the overall genetic landscape and clinical implications of FCDII remain largely unclear due to a significant gap in translating genetic data to inform surgical approaches and prognostic evaluations of individual cases. We carried out deep exome sequencing and deep amplicon validation of surgical biopsies and matched blood samples from 14 FCDII patients with confirmed neuropathology. We further performed multiscale pathogenic validations and took advantage of existing single-nucleus RNA sequencing and spatial maps from developing human

SUBMITTER: Bernardino Garcia CA 

PROVIDER: S-EPMC12632673 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature