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Volumn 77, Issue , 2015, Pages 475-479

Episodic disorders: Channelopathies and beyond

Author keywords

Channelopathies; Epilepsy; Genetic disorders; Headache; Paroxysmal

Indexed keywords

ARTICLE; CHANNELOPATHY; DIETARY INTAKE; GENE MUTATION; HEREDITARY EPISODIC DISEASE; MEDICAL HISTORY; MOTOR DYSFUNCTION; MUSCLE DISEASE; MUSCLE FUNCTION; PHENOTYPE; PRIORITY JOURNAL; CLUSTER HEADACHE; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EPILEPSY; GENETIC DISORDER; GENETICS; HUMAN; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY;

EID: 84922789145     PISSN: 00664278     EISSN: 15451585     Source Type: Book Series    
DOI: 10.1146/annurev-physiol-021014-071922     Document Type: Article
Times cited : (15)

References (8)
  • 1
    • 0026516209 scopus 로고
    • Temperaturesensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
    • McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, et al. 1992. Temperaturesensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 68:769-74
    • (1992) Cell , vol.68 , pp. 769-774
    • McClatchey, A.I.1    Van Den Bergh, P.2    Pericak-Vance, M.A.3    Raskind, W.4    Verellen, C.5
  • 2
    • 0026766904 scopus 로고
    • Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
    • Ptáček LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, et al. 1992. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 8:891-97
    • (1992) Neuron , vol.8 , pp. 891-897
    • Ptáček, L.J.1    George, A.L.2    Barchi, R.L.3    Griggs, R.C.4    Riggs, J.E.5
  • 3
    • 0025790174 scopus 로고
    • Identification of a mutation in the gene causing hyperkalemic periodic paralysis
    • Ptáček LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, et al. 1991. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67:1021-27
    • (1991) Cell , vol.67 , pp. 1021-1027
    • Ptáček, L.J.1    George, A.L.2    Griggs, R.C.3    Tawil, R.4    Kallen, R.G.5
  • 4
    • 0025932040 scopus 로고
    • A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis
    • Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr. 1991. A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis. Nature 354:387-89
    • (1991) Nature , vol.354 , pp. 387-389
    • Rojas, C.V.1    Wang, J.Z.2    Schwartz, L.S.3    Hoffman, E.P.4    Powell, B.R.5    Brown, R.H.6
  • 5
    • 0027248018 scopus 로고
    • Non-dystrophic myotonias and periodic paralyses: A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany
    • Lehmann-Horn F, Rudel R, Ricker K. 1993. Non-dystrophic myotonias and periodic paralyses: a European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. Neuromuscul. Disord. 3:161-68
    • (1993) Neuromuscul. Disord. , vol.3 , pp. 161-168
    • Lehmann-Horn, F.1    Rudel, R.2    Ricker, K.3
  • 6
    • 84880318442 scopus 로고    scopus 로고
    • Episodic neurologic disorders: Syndromes, genes, and mechanisms
    • Russell JF, Fu Y-H, Ptáček LJ. 2013. Episodic neurologic disorders: syndromes, genes, and mechanisms. Annu. Rev. Neurosci. 36:25-50
    • (2013) Annu. Rev. Neurosci. , vol.36 , pp. 25-50
    • Russell, J.F.1    Fu, Y.-H.2    Ptáček, L.J.3
  • 7
    • 77957896478 scopus 로고    scopus 로고
    • Episodic neurological channelopathies
    • Ryan DP, Ptáček LJ. 2010. Episodic neurological channelopathies. Neuron 68:282-92
    • (2010) Neuron , vol.68 , pp. 282-292
    • Ryan, D.P.1    Ptáček, L.J.2
  • 8
    • 0036365675 scopus 로고    scopus 로고
    • Molecular biology of episodic movement disorders
    • Ptacek LJ, Fu Y-H. 2002. Molecular biology of episodic movement disorders. Adv. Neurol. 89:453-58
    • (2002) Adv. Neurol. , vol.89 , pp. 453-458
    • Ptacek, L.J.1    Fu, Y.-H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.