Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.

ABSTRACT:

Background and objectives

Progressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration. We investigated the genetics of three unrelated patients with PME from Mali, a country in sub-Saharan Africa highly underrepresented in genetic and genomic research.

Methods

Participants were carefully examined and phenotyped. DNA was obtained for genetic analysis including whole exome sequencing (WES). In silico prediction tools and ACMG criteria were used to assess the deleteriousness of putative candidate variants.

Results

Pedigree analysis suggests autosomal recessive inheritance patterns for one family and sporadic forms of PME for the two other cases. WES identified n

SUBMITTER: Cisse L 

PROVIDER: S-EPMC11461190 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature