2023
KIF4 Gene Variant’s Disruption of PARP1 Signaling Increases Anxiety and Seizure Susceptibility
Bordey A. KIF4 Gene Variant’s Disruption of PARP1 Signaling Increases Anxiety and Seizure Susceptibility. Epilepsy Currents 2023, 23: 257-258. PMID: 37662464, PMCID: PMC10470092, DOI: 10.1177/15357597231175007.Peer-Reviewed Original ResearchSeizure susceptibilityDevelopmental delayLower seizure thresholdHippocampal pyramidal neuronsSeizure susceptibility phenotypesCommon neurological diseasesPoly (ADP-ribose) polymeraseMild developmental delayKCC2 pathwaySeizure thresholdPyramidal neuronsEpilepsy treatmentMember of kinesinNeurological diseasesNeurological disordersBehavioral testsNeuronal morphologyMutant miceGenetic abnormalitiesIncreases anxietyPotential targetIntellectual disabilityEpilepsySignaling pathwaysSusceptibility phenotype
2011
Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
Feliciano DM, Su T, Lopez J, Platel JC, Bordey A. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. Journal Of Clinical Investigation 2011, 121: 1596-1607. PMID: 21403402, PMCID: PMC3069783, DOI: 10.1172/jci44909.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAstrocytesBase SequenceCell SizeCerebral CortexDisease Models, AnimalDNA PrimersFemaleGene Knockout TechniquesMiceMice, 129 StrainMice, Inbred BALB CMice, Inbred C57BLMice, KnockoutMice, Mutant StrainsMice, TransgenicPregnancySeizuresTOR Serine-Threonine KinasesTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsConceptsTuberous sclerosis complexSeizure thresholdNeuronal populationsSigns of gliosisLower seizure thresholdContribution of astrocytesDiscrete neuronal populationsAutosomal dominant disorderHeterotopic nodulesCortical hyperexcitabilityCortical tubersCortical lesionsGlial reactivityIntractable seizuresCortical malformationsSoma sizeAnimal modelsTSC1 gene productAffected neuronsDendritic treeGiant cellsUtero electroporationMutant miceLesion formationMammalian target