Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families.

ABSTRACT:

Background

Epilepsy, a challenging neurological condition, is often present with comorbidities that significantly impact diagnosis and management. In the Pakistani population, where financial limitations and geographical challenges hinder access to advanced diagnostic methods, understanding the genetic underpinnings of epilepsy and its associated conditions becomes crucial.

Methods

This study investigated four distinct Pakistani families, each presenting with epilepsy and a spectrum of comorbidities, using a combination of whole exome sequencing (WES) and Sanger sequencing. The epileptic patients were prescribed multiple antiseizure medications (ASMs), yet their seizures persist, indicating the challenging nature of ASM-resistant epilepsy.

Results

Identified genetic v

SUBMITTER: Yasin M 

PROVIDER: S-EPMC11112905 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature