Exome sequencing in Nigerian children with early-onset epilepsy syndromes.

ABSTRACT:

Objective

Nigeria, along with other Sub-Saharan African countries, bears the highest burden of epilepsy worldwide. This high prevalence is attributed to a combination of factors, including a significant incidence of infectious diseases, perinatal complications, and genetic etiologies. Genetic testing is rarely available and is not typically included in the routine diagnostic work-up for individuals with infantile and childhood epilepsy syndromes in these regions. Exome sequencing (ES) offers a diagnostic yield of 24%-62%, but these figures primarily reflect data from high-income countries (HICs) and may not be applicable to low- and middle-income countries (LMICs). In this study, we employed ES to investigate the genetic basis of early-onset epilepsy in 22 affected children from Ni

SUBMITTER: Ademuwagun IA 

PROVIDER: S-EPMC11803284 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature