2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Cissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.Peer-Reviewed Original ResearchWhole-exome sequencingACMG criteriaProgressive myoclonic epilepsyProtein 3D structuresHomozygous missense variantRecessive inheritance patternCADD scoresAutosomal recessive inheritance patternSequence variantsMissense variantsGenomic researchExome sequencingGenetic analysisGenetic studiesPathogenic variantsPedigree analysisGenetic epidemiologyGenetic researchGenetic profileHeterogeneous neurological disordersInheritance patternSporadic formsACMGGroup of neurological disordersMyoclonic epilepsy
2021
Microinjection of Xenopus tropicalis Embryos.
Lane M, Mis EK, Khokha MK. Microinjection of Xenopus tropicalis Embryos. Cold Spring Harbor Protocols 2021, 2022: pdb.prot107644. PMID: 34244348, DOI: 10.1101/pdb.prot107644.Peer-Reviewed Original ResearchConceptsEmbryo sizeLarger embryo sizeTargeted gene manipulationEmbryo development timeSmall embryo sizeXenopus tropicalis embryosDevelopmental biologyEarly embryosMicroinjection protocolGene manipulationGenetic studiesFirst divisionXenopusEmbryosImportant modelDevelopment timeMicroinjectionMorpholinoCRISPRBiologySpeciesDNAMRNAOocytesFertilizationObtaining Xenopus tropicalis Eggs.
Lane M, Mis EK, Khokha MK. Obtaining Xenopus tropicalis Eggs. Cold Spring Harbor Protocols 2021, 2022: pdb.prot106344. PMID: 34031209, DOI: 10.1101/pdb.prot106344.Peer-Reviewed Original ResearchConceptsDevelopmental biologyGene manipulation toolsPowerful model systemCell biological studiesCell-free systemTetraploid genomeDiploid genomeThousands of eggsEgg extractsGenetic studiesXenopusGenomePremier systemModel systemEggsBiological studiesBiologyEmbryosFrogsManipulation toolsTiming of stepsSpeciesHormoneFemalesCells