PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
Liu YT, Nian FS, Chou WJ, Tai CY, Kwan SY, Chen C, Kuo PW, Lin PH, Chen CY, Huang CW, Lee YC, Soong BW, Tsai JW. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. Oncotarget 2016, 7: 39184-39196. PMID: 27172900, PMCID: PMC5129924, DOI: 10.18632/oncotarget.9258.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChlorocebus aethiopsCOS CellsCytoplasmDisease Models, AnimalDystoniaEpilepsyGenetic Predisposition to DiseaseHEK293 CellsHeterozygoteHippocampusHumansIntellectual DisabilityMembrane ProteinsMiceMice, Inbred ICRMutationMutation, MissenseNerve Tissue ProteinsNeurodegenerative DiseasesNeuronsRatsRats, Sprague-DawleyRNA, Small InterferingTaiwanConceptsDisease-causing mechanismsParoxysmal kinesigenic dyskinesiaProtein 2 geneMissense mutantsProline-rich transmembrane protein 2 (PRRT2) geneEmbryonic developmentMembrane fractionationPost-synaptic membraneSevere clinical symptomsNeurodevelopmental defectsPRRT2 mutationsPRRT2 expressionNovel disease-causing mechanismsCell membraneNeuronal migrationMutationsProtein expressionMutantsUtero electroporationClinical symptomsNeuronal dysfunctionSynaptic densityCortical neuronsFunction effectsPathologic effects