Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali
Bamba S, Sidibé L, Diallo S, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé M, Diarra S, Maiga A, Traoré O, Diallo S, Mefoung S, Touré A, Koné A, Jeffries L, Guinto C, Mis E, Fischbeck K, Khokha M, Lakhani S, Landouré G. Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers In Genetics 2024, 15: 1412442. DOI: 10.3389/fgene.2024.1412442.Peer-Reviewed Original ResearchWhole-exome sequencingGenetic basisIdentified rare variantsIn silico prediction analysisCompound heterozygous variantsPutative variantsIn silico toolsACMG criteriaExome sequencingProtein structureNovel variantsEpileptic encephalopathyAssess pathogenicityHeterozygous variantsRare variantsHomozygous variantSub-Saharan AfricaDisease mechanismsAssociated with earlier onsetRefractory to antiepileptic medicationsResistant to treatmentGroup of neurological disordersMalian familyEarly-onset seizuresPotential clinical implications