Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.

ABSTRACT:

Background and objectives

Developmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developmental delay or regression. Their genetic basis remains largely unelucidated, especially in sub-Saharan Africa (SSA). We investigated the genetic bases of DEE in three Malian families.

Methods

Patients underwent clinical evaluation, and DNA was obtained for whole exome sequencing (WES). Putative variants were screened in all available family members and in silico prediction analyses were performed to assess pathogenicity.

Results

Five patients from three unrelated families with DEEs had symptoms that started during t

SUBMITTER: Bamba S 

PROVIDER: S-EPMC11609193 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature