Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.

ABSTRACT: Focal cortical dysplasia type III (FCDIII) is a rare and complex condition associated with drug-resistant epilepsy and often characterized by cortical lamination abnormalities, along with a variety of neoplasms and vascular abnormalities.

Objectives

This study aimed to elucidate the genetic architecture underlying FCDIII through the use of whole-exome sequencing (WES) of brain and peripheral blood samples from 19 patients who had been diagnosed with FCDIII.

Methods

Variants were identified through a series of machine-learning-based detection and functional prediction methods and were not previously associated with FCDIII. Mosaic fraction scores of these variants validated the variants' pathogenicity, and in silico and gene ontology enrichment analyses demonstrated that these

SUBMITTER: Garcia CAB 

PROVIDER: S-EPMC12026736 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature