Mutations in many classes of ion channelsare associatedwithhuman diseaseIIDutnNavFHM3PAM?PMCGEFS+PEPDHyperKPpHypoKPpErythermelgiaOutCIPOut10InKvKirBFNCEAIATSKJ-LNSCA13TPPLongQTAtrialFibrillationIXT儿CavCAEHypoKPpEA5LongQTSCA6/EA2/FHM1
Mutations in many classes of ion channels are associated with human disease
Genotype-phenotype correlationsin Long QT syndromeKCNQ1(LQT1)KCNH2(LQT2)BetaBetaBlockersBiockersn10030%8035%40402080Swimming60EanoExertionOE40PostpartumPeriodAuditoryTriggersSCN5A(LQT3)1008品导品BetaMexletineBlockers10%SeDCeSleep/Rest
Genotype-phenotype correlations in Long QT syndrome
lon channelsassociated withpainsyndromesTRANSDUCTIONMODULATIONMIGRAINEHeatColdDamagemediatorsATP1A2InhibitorycircuitsTRPV1TRPM8P2X3P2X4P2X7Cav2.1,GLYRC-3.NKKC1TRPV2TRPA15-HT3TRPV1TRPA1MicroglialActivationNav1.1TRPV3ASICSATPviaP2X4.P2X7TRPV4MechanosensationP2X3TRPV4,TRPC/V/P?Alteredpainthresholds0000TRPV1,Nav1.5,Nav1.7,Nav1.8,Nav1.9KCNQ.K2PKVIHCNTRANSMISSIONNav1.7.Nav1.8,Nav1.1Nav1.2,Nav1.6, (Nav1.3)Threshold-Nav1.9VISCERALPAINNav1.5,Nav1.8TRANSMITTERRELEASENav1.9Cav2.1,Cav2.2.Cav3.1,Cav3.2.a2d1
Ion channels associated with pain syndromes
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水Calcium and Alzheimer's DiseaseJieZhang
Jie Zhang