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Volumn 343, Issue 4, 2012, Pages 281-285

Genotype and phenotype analysis of patients with sporadic periodic paralysis

Author keywords

Calcium channel; Hypokalemia; Paralysis; Sodium channel; Sporadic

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL ALPHA1 SUBUNIT; CARBOHYDRATE; GENOMIC DNA; LIOTHYRONINE; POTASSIUM ION; SODIUM CHANNEL; SODIUM CHANNEL ALPHA1 SUBUNIT; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

EID: 84859108190     PISSN: 00029629     EISSN: 15382990     Source Type: Journal    
DOI: 10.1097/MAJ.0b013e31822b430c     Document Type: Article
Times cited : (26)

References (35)
  • 1
    • 0026594659 scopus 로고
    • Hypokalemic paralyses: A review of the etiologies, pathophysiology, presentation and therapy
    • Stedwell RE, Allen KM, Binder LS. Hypokalemic paralyses: a review of the etiologies, pathophysiology, presentation and therapy. Am J Emerg Med 1992;10:143-6.
    • (1992) Am J Emerg Med , vol.10 , pp. 143-146
    • Stedwell, R.E.1    Allen, K.M.2    Binder, L.S.3
  • 2
    • 0035079089 scopus 로고    scopus 로고
    • Hypokalemia and paralysis
    • Lin SH, Lin YF, Halperin ML. Hypokalemia and paralysis. QJM 2001;94:133-9.
    • (2001) QJM , vol.94 , pp. 133-139
    • Lin, S.H.1    Lin, Y.F.2    Halperin, M.L.3
  • 3
    • 34250189556 scopus 로고    scopus 로고
    • Hypokalemia: A practical approach to diagnosis and its genetic basis
    • DOI 10.2174/092986707780831050
    • Lin SH, Halperin ML. Hypokalemia: a practical approach to diagnosis and its genetic basis. Curr Med Chem 2007;14:1551-65. (Pubitemid 46902215)
    • (2007) Current Medicinal Chemistry , vol.14 , Issue.14 , pp. 1551-1565
    • Lin, S.-H.1    Halperin, M.L.2
  • 4
    • 3242775337 scopus 로고    scopus 로고
    • Laboratory tests to determine the causes for hypokalemia and paralysis
    • Lin SH, Lin YF, Chen DT, et al. Laboratory tests to determine the causes for hypokalemia and paralysis. Arch Intern Med 2004;164: 1561-6.
    • (2004) Arch Intern Med , vol.164 , pp. 1561-1566
    • Lin, S.H.1    Lin, Y.F.2    Chen, D.T.3
  • 5
    • 11344292860 scopus 로고    scopus 로고
    • Thyrotoxic periodic paralysis
    • Lin SH. Thyrotoxic periodic paralysis. Mayo Clin Proc 2005;80:99-105.
    • (2005) Mayo Clin Proc , vol.80 , pp. 99-105
    • Lin, S.H.1
  • 8
    • 1842534252 scopus 로고    scopus 로고
    • Absence of Ion Channels CACN1AS and SCN4A Mutations in Thyrotoxic Hypokalemic Periodic Paralysis
    • DOI 10.1089/105072504773297858
    • Ng WY, Lui KF, Thai AC, et al. Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. Thyroid 2004;14:187-90. (Pubitemid 38452190)
    • (2004) Thyroid , vol.14 , Issue.3 , pp. 187-190
    • Ng, W.-Y.1    Lui, K.F.2    Thai, A.C.3    Cheah, J.S.4
  • 9
    • 33645118251 scopus 로고    scopus 로고
    • Mutation screening in Chinese hypokalemic periodic paralysis patients
    • Wang W, Jiang L, Ye L, et al. Mutation screening in Chinese hypokalemic periodic paralysis patients. Mol Genet Metab 2006;87: 359-63.
    • (2006) Mol Genet Metab , vol.87 , pp. 359-363
    • Wang, W.1    Jiang, L.2    Ye, L.3
  • 10
    • 0026778333 scopus 로고
    • Thyrotoxic periodic paralysis in the United States: Report of 7 cases and review of the literature
    • Oker KP. Thyrotoxic periodic paralysis in the United States: report of 7 cases and review of the literature. Medicine 1992;71:109-20.
    • (1992) Medicine , vol.71 , pp. 109-120
    • Oker, K.P.1
  • 11
    • 0005535669 scopus 로고
    • Periodic paralysis in Taiwan. Clinical study of 28 cases
    • Chen KW, Hung TP, Lin TY. Periodic paralysis in Taiwan. Clinical study of 28 cases. Arch Neurol 1965;12:165-71.
    • (1965) Arch Neurol , vol.12 , pp. 165-171
    • Chen, K.W.1    Hung, T.P.2    Lin, T.Y.3
  • 13
    • 1642365758 scopus 로고    scopus 로고
    • v1.1) and thyrotoxic periodic paralysis
    • DOI 10.1210/jc.2003-030924
    • Kung AW, Lau KS, Fong GC, et al. Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v) 1.1) and thyrotoxic periodic paralysis. J Clin Endocrinol Metab 2004;89:1340-5. (Pubitemid 38368434)
    • (2004) Journal of Clinical Endocrinology and Metabolism , vol.89 , Issue.3 , pp. 1340-1345
    • Kung, A.W.C.1    Lau, K.S.2    Fong, G.C.Y.3    Chan, V.4
  • 16
    • 0028854326 scopus 로고
    • Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families
    • Elbaz A, Vale-Santos J, Jurkat-Rott K, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995;56:374-80.
    • (1995) Am J Hum Genet , vol.56 , pp. 374-380
    • Elbaz, A.1    Vale-Santos, J.2    Jurkat-Rott, K.3
  • 17
    • 0030992784 scopus 로고    scopus 로고
    • Hypokalemic periodic paralysis: An autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel
    • DOI 10.1016/S0960-8966(97)00435-5, PII S0960896697004355
    • Lapie P, Lory P, Fontaine B. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. Neuromuscul Disord 1997;7:234-40. (Pubitemid 27270290)
    • (1997) Neuromuscular Disorders , vol.7 , Issue.4 , pp. 234-240
    • Lapie, P.1    Lory, P.2    Fontaine, B.3
  • 19
    • 0032801833 scopus 로고    scopus 로고
    • A novel sodium channel mutation in a family with hypokalemic periodic paralysis
    • Bulman DE, Scoggan KA, van Oene MD, et al. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999;10:1932-6.
    • (1999) Neurology , vol.10 , pp. 1932-1936
    • Bulman, D.E.1    Scoggan, K.A.2    Van Oene, M.D.3
  • 21
    • 5144224307 scopus 로고    scopus 로고
    • Mutation screening in Korean hypokalemic periodic paralysis patients: A novel SCN4A Arg672Cys mutation
    • Kim MK, Lee SH, Park MS, et al. Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation. Neuromuscul Disord 2004;14:727-31.
    • (2004) Neuromuscul Disord , vol.14 , pp. 727-731
    • Kim, M.K.1    Lee, S.H.2    Park, M.S.3
  • 22
    • 0035833968 scopus 로고    scopus 로고
    • Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK
    • Davies NP, Eunson LH, Samuel M, et al. Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Neurology 2001;9:1323-5. (Pubitemid 32947399)
    • (2001) Neurology , vol.57 , Issue.7 , pp. 1323-1325
    • Davies, N.P.1    Eunson, L.H.2    Samuel, M.3    Hanna, M.G.4
  • 23
    • 67649397890 scopus 로고    scopus 로고
    • Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
    • Matthews E, Labrum R, Sweeney MG, et al. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology 2009;72:1544-7.
    • (2009) Neurology , vol.72 , pp. 1544-1547
    • Matthews, E.1    Labrum, R.2    Sweeney, M.G.3
  • 24
    • 1842635494 scopus 로고    scopus 로고
    • Voltage sensing in ion channels: A 50-year-old mystery resolved?
    • DOI 10.1016/S0140-6736(04)15954-0, PII S0140673604159540
    • Arhem P. Voltage sensing in ion channels: a 50-year-old mystery resolved? Lancet 2004;363:1221-3. (Pubitemid 38481850)
    • (2004) Lancet , vol.363 , Issue.9416 , pp. 1221-1223
    • Arhem, P.1
  • 25
    • 74949094025 scopus 로고    scopus 로고
    • Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
    • Ruff RL. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology 2010;74:269.
    • (2010) Neurology , vol.74 , pp. 269
    • Ruff, R.L.1
  • 28
    • 0030027611 scopus 로고    scopus 로고
    • Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect
    • DOI 10.1016/0960-8966(95)00018-6
    • Grosson CL, Esteban J, McKenna-Yasek D, et al. Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neuromuscul Disord 1996;6:27-31. (Pubitemid 26016499)
    • (1996) Neuromuscular Disorders , vol.6 , Issue.1 , pp. 27-31
    • Grosson, C.L.S.1    Esteban, J.2    McKenna-Yasek, D.3    Gusella, J.F.4    Brown Jr., R.H.5
  • 29
    • 38349123539 scopus 로고    scopus 로고
    • The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis
    • Kim JB, Kim MH, Lee SJ, et al. The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. J Korean Med Sci 2007;22:946-51.
    • (2007) J Korean Med Sci , vol.22 , pp. 946-951
    • Kim, J.B.1    Kim, M.H.2    Lee, S.J.3
  • 30
    • 13844275563 scopus 로고    scopus 로고
    • Skeletal muscle dihydropyridine-sensitive calcium channel gene mutations in Chinese patients with hypokalemic periodic paralysis
    • Lin SH, Hsu YD, Cheng NL, et al. Skeletal muscle dihydropyridine- sensitive calcium channel gene mutations in Chinese patients with hypokalemic periodic paralysis. Am J Med Sci 2005;329:66-70.
    • (2005) Am J Med Sci , vol.329 , pp. 66-70
    • Lin, S.H.1    Hsu, Y.D.2    Cheng, N.L.3
  • 31
    • 0023894157 scopus 로고
    • Insulin-mediated hypokalemia and paralysis in familial hypokalemic periodic paralysis
    • Minaker KL, Meneilly GS, Flier JS, et al. Insulin-mediated hypokalemia and paralysis in familial hypokalemic periodic paralysis. Am J Med 1988;84:1001-6.
    • (1988) Am J Med , vol.84 , pp. 1001-1006
    • Minaker, K.L.1    Meneilly, G.S.2    Flier, J.S.3
  • 32
    • 62649111494 scopus 로고    scopus 로고
    • + overload, major and reversible contributors to weakness by ion channel leaks
    • + overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci U S A 2009;106:4036-41.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 4036-4041
    • Jurkat-Rott, K.1    Weber, M.A.2    Fauler, M.3
  • 34
    • 77950594149 scopus 로고    scopus 로고
    • Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis
    • Kil TH, Kim JB. Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. Eur J Paediatr Neurol 2010;14:278-81.
    • (2010) Eur J Paediatr Neurol , vol.14 , pp. 278-281
    • Kil, T.H.1    Kim, J.B.2
  • 35
    • 77957365024 scopus 로고    scopus 로고
    • Timing of de novo mutagenesis-a twin study of sodium-channel mutations
    • Vadlamudi L, Dibbens LM, Lawrence KM, et al. Timing of de novo mutagenesis-a twin study of sodium-channel mutations. N Engl J Med 2010;363:1335-40.
    • (2010) N Engl J Med , vol.363 , pp. 1335-1340
    • Vadlamudi, L.1    Dibbens, L.M.2    Lawrence, K.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.