lon channel(diseasesJie Zhang,Binghua Lu,Shaoui Liu,Meng Zhang,Li Feng.Junwei Yao,Cheng LongSchool of Life Sciences, South China Normal UniversityApril 10, 20121933華南轩范大学UNIVERSITYSOUTH CHINA NORSMAL
Ion channel diseases Jie Zhang, Binghua Lu, Shaoui Liu, Meng Zhang, Li Feng, Junwei Yao, Cheng Long School of Life Sciences, South China Normal University April 10, 2012
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References Dib-Hajj SD, Cummins TR, Black JA, Waxman SG. (2010). Sodium channels in normal and pathological pain. Annu Rev Neurosci. 33: 325–347. Cannon SC. (2010) Voltage-sensor mutations in channelopathies of skeletal muscle. J Physiol. 588(11): 1887–1895. Betzenhauser MJ, Marks AR. (2010) Ryanodine receptor channelopathies. Pflugers Arch - Eur J Physiol. 460(2): 467–480. Raouf R, Quick K, Wood JN. (2010) Pain as a channelopathy. J Clin Invest. 120(11): 3745–3752. Galanopoulou AS. (2010) Mutations affecting GABAergic signaling in seizures and epilepsy. Pflugers Arch - Eur J Physiol. 460(2): 505– 523. Lory P, Mezghrani A. (2010) Calcium channelopathies in inherited neurological disorders: relevance to drug screening for acquired channel disorders. IDrugs. 13(7): 467-471. Ryan DP, Ptácek LJ. (2010) Episodic neurological channelopathies. Neuron. 68(2): 282-292
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References Rolim AL, Lindsey SC, Kunii IS, Fujikawa AM, Soares FA, Chiamolera MI, Maciel RM, Silva MR. (2010) Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights. Arq Bras Endocrinol Metabol. 54(8): 673-681. Cregg R, Momin A, Rugiero F, Wood JN, Zhao J. (2010) Pain channelopathies. J Physiol. 588(11): 1897-1904. Kullmann DM, Waxman SG. (2010) Neurological channelopathies: new insights into disease mechanisms and ion channel function. J Physiol. 588(11): 1823-1827. Raja Rayan DL, Hanna MG. (2010) Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. Curr Opin Neurol. 23(5): 466-476. Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. (2008) Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci. 28(46): 11768-11777. Pietrobon D. (2002) Calcium channels and channelopathies of the central nervous system. Mol Neurobiol. 25(1): 31-50
lonchanneldiseaselonchanneldisorderlonchannelopathyChannelopathiesarediseasescausedbydisturbedfunctionofionchannel subunits ortheproteinsthatregulatethem.Geneticdisordersofionchannelsandtheirmodifiersare known as channelopathies.Channelopathiesareassociatedwithawidevarietyofsymptoms
Ion channel disease Ion channel disorder Ion channelopathy Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. Genetic disorders of ion channels and their modifiers are known as channelopathies. Channelopathies are associated with a wide variety of symptoms
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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