Integrative Analysis of Epilepsy-Associated Genes Reveals Expression-Phenotype Correlations.

ABSTRACT: Epilepsy is a highly prevalent neurological disorder characterized by recurrent seizures. Patients exhibit broad genetic, molecular, and clinical diversity involving mild to severe comorbidities. The factors that contribute to this phenotypic diversity remain unclear. We used publicly available datasets to systematically interrogate the expression pattern of 247 epilepsy-associated genes across human tissues, developmental stages, and central nervous system (CNS) cellular subtypes. We grouped genes based on their curated phenotypes into 3 broad classes: core epilepsy genes (CEG), where seizures are the core syndrome, developmental and epileptic encephalopathy genes (DEEG) that are associated with developmental delay, and seizure-related genes (SRG), which are characterized by developmental

SUBMITTER: Chi W 

PROVIDER: S-EPMC10274872 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature