2024
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
2022
Discovering the Function of Congenital Heart Disease Genes
González D, Khokha M. Discovering the Function of Congenital Heart Disease Genes. 2022, 233-244. DOI: 10.1201/9781003050230-19.Peer-Reviewed Original ResearchLarger brood sizesCongenital heart disease genesCommon congenital birth defectHeart disease genesCongenital heart diseaseLeft-right axisCHD genesCell biologistsOrgan situsBrood sizeLeft-right asymmetryDe novo mutationsDisease genesSequencing studiesBirth defectsCongenital birth defectsGenetic diseasesGenesNovo mutationsDisease mechanismsStructural cardiac abnormalitiesNovel de novo mutationHeart diseaseCardiac abnormalitiesCardiac structure