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Volumn 53, Issue 1, 1999, Pages 38-43

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE;

EID: 0033551452     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.1.38     Document Type: Article
Times cited : (165)

References (42)
  • 1
    • 0346031709 scopus 로고
    • Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain
    • Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia 1988;8(suppl 7):1-96.
    • (1988) Cephalalgia , vol.8 , Issue.7 SUPPL. , pp. 1-96
  • 2
    • 0029117411 scopus 로고
    • Adult onset familial hemiplegic migraine
    • Rajput V, Kramer ED. Adult onset familial hemiplegic migraine. Headache 1995;35:423-427.
    • (1995) Headache , vol.35 , pp. 423-427
    • Rajput, V.1    Kramer, E.D.2
  • 4
    • 0021799194 scopus 로고
    • Migraine coma. Meningitic migraine with cerebral oedema associated with a new form of autosomal dominant cerebellar ataxia
    • Fitzimons RB, Wolfenden WH. Migraine coma. Meningitic migraine with cerebral oedema associated with a new form of autosomal dominant cerebellar ataxia. Brain 1985;108: 555-577.
    • (1985) Brain , vol.108 , pp. 555-577
    • Fitzimons, R.B.1    Wolfenden, W.H.2
  • 5
    • 0025017477 scopus 로고
    • Familial migraine coma: A case study
    • Münte TF, Müller-Vahl H. Familial migraine coma: a case study. J Neurol 1990;237:59-61.
    • (1990) J Neurol , vol.237 , pp. 59-61
    • Münte, T.F.1    Müller-Vahl, H.2
  • 6
    • 0028113230 scopus 로고
    • Genetic heterogeneity of familial hemiplegic migraine
    • Joutel A, Ducros A, Vahedi K, et al. Genetic heterogeneity of familial hemiplegic migraine. Am J Hum Genet 1994;55: 1166-1172.
    • (1994) Am J Hum Genet , vol.55 , pp. 1166-1172
    • Joutel, A.1    Ducros, A.2    Vahedi, K.3
  • 7
    • 0028142733 scopus 로고
    • Genetic heterogeneity of familial hemiplegic migraine
    • Ophoff RA, van Eijk R, Sandkuijl LA, et al. Genetic heterogeneity of familial hemiplegic migraine. Genomics 1994;22: 21-26.
    • (1994) Genomics , vol.22 , pp. 21-26
    • Ophoff, R.A.1    Van Eijk, R.2    Sandkuijl, L.A.3
  • 8
    • 0031470730 scopus 로고    scopus 로고
    • Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity
    • Ducros A, Joutel A, Vahedi K, et al. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann Neurol 1997;42:885-890.
    • (1997) Ann Neurol , vol.42 , pp. 885-890
    • Ducros, A.1    Joutel, A.2    Vahedi, K.3
  • 9
    • 0030657961 scopus 로고    scopus 로고
    • A new locus for hemiplegic migraine maps to chromosome 1q31
    • Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology 1997;49:1231-1238.
    • (1997) Neurology , vol.49 , pp. 1231-1238
    • Gardner, K.1    Barmada, M.M.2    Ptacek, L.J.3    Hoffman, E.P.4
  • 10
    • 0030013798 scopus 로고    scopus 로고
    • Familial hemiplegic migraine: A clinical comparison of families linked and unlinked to chromosome 19
    • Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19. Cephalalgia 1996; 16:153-155.
    • (1996) Cephalalgia , vol.16 , pp. 153-155
    • Terwindt, G.M.1    Ophoff, R.A.2    Haan, J.3    Frants, R.R.4    Ferrari, M.D.5
  • 11
    • 0027306090 scopus 로고
    • A gene for familial hemiplegic migraine maps to chromosome 19
    • Joutel A, Bousser MG, Biousse V, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993;5:40-45.
    • (1993) Nat Genet , vol.5 , pp. 40-45
    • Joutel, A.1    Bousser, M.G.2    Biousse, V.3
  • 12
    • 0030052699 scopus 로고    scopus 로고
    • Familial hemiplegic migraine, nystagmus, and cerebellar atrophy
    • Elliot MA, Peroutka SJ, Welch S, May EF. Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. Ann Neurol 1996;39:100-106.
    • (1996) Ann Neurol , vol.39 , pp. 100-106
    • Elliot, M.A.1    Peroutka, S.J.2    Welch, S.3    May, E.F.4
  • 14
    • 0031896548 scopus 로고    scopus 로고
    • Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine
    • Terwindt GM, Ophoff RA, Haan J, et al. Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Neurology 1998;50:1105-1110.
    • (1998) Neurology , vol.50 , pp. 1105-1110
    • Terwindt, G.M.1    Ophoff, R.A.2    Haan, J.3
  • 15
    • 0030799454 scopus 로고    scopus 로고
    • Calcium channels in neurological disease
    • Greenberg DA. Calcium channels in neurological disease. Ann Neurol 1997;42:275-282.
    • (1997) Ann Neurol , vol.42 , pp. 275-282
    • Greenberg, D.A.1
  • 17
    • 0028920029 scopus 로고
    • Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
    • von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995;4:279-284.
    • (1995) Hum Mol Genet , vol.4 , pp. 279-284
    • Von Brederlow, B.1    Hahn, A.F.2    Koopman, W.J.3    Ebers, G.C.4    Bulman, D.E.5
  • 18
    • 0028963974 scopus 로고
    • A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
    • Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289-293.
    • (1995) Ann Neurol , vol.37 , pp. 289-293
    • Vahedi, K.1    Joutel, A.2    Van Bogaert, P.3
  • 19
    • 0031015937 scopus 로고    scopus 로고
    • Familial episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19p
    • Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997;41:8-16.
    • (1997) Ann Neurol , vol.41 , pp. 8-16
    • Baloh, R.W.1    Yue, Q.2    Furman, J.M.3    Nelson, S.F.4
  • 20
    • 0023886345 scopus 로고
    • Magnetic resonance imaging in familial paroxysmal ataxia
    • Vighetto A, Froment JC, Trillet M, Aimard G. Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol 1988;45:547-549.
    • (1988) Arch Neurol , vol.45 , pp. 547-549
    • Vighetto, A.1    Froment, J.C.2    Trillet, M.3    Aimard, G.4
  • 22
    • 9844263366 scopus 로고    scopus 로고
    • Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
    • Jodice C, Mantuano E, Veneziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6:1973-1978.
    • (1997) Hum Mol Genet , vol.6 , pp. 1973-1978
    • Jodice, C.1    Mantuano, E.2    Veneziano, L.3
  • 23
    • 0030776159 scopus 로고    scopus 로고
    • Progressive ataxia due to a missense mutation in a calcium-channel gene
    • Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 1997;61:1078-1087.
    • (1997) Am J Hum Genet , vol.61 , pp. 1078-1087
    • Yue, Q.1    Jen, J.C.2    Nelson, S.F.3    Baloh, R.W.4
  • 25
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Fauré S, Samson D, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Samson, D.3
  • 27
    • 0027965420 scopus 로고
    • A calcium channel mutation causing hypokalemic periodic paralysis
    • Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994;3:1415-1419.
    • (1994) Hum Mol Genet , vol.3 , pp. 1415-1419
    • Jurkat-Rott, K.1    Lehmann-Horn, F.2    Elbaz, A.3
  • 28
    • 0032548777 scopus 로고    scopus 로고
    • Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor α1 subunits (R528H)
    • Jurkat-Rott K, Uetz U, Pika-Hartlaub U. Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor α1 subunits (R528H). FEBS Lett 1998;423:198-204.
    • (1998) FEBS Lett , vol.423 , pp. 198-204
    • Jurkat-Rott, K.1    Uetz, U.2    Pika-Hartlaub, U.3
  • 29
    • 0031767481 scopus 로고    scopus 로고
    • Molecular modelling investigation of wild-type and the R528H mutated segment IIS4 of human L-type voltage-gated calcium channels
    • Schleifer KJ, Holtje HD. Molecular modelling investigation of wild-type and the R528H mutated segment IIS4 of human L-type voltage-gated calcium channels. Protein Eng 1998;11: 1033-1040.
    • (1998) Protein Eng , vol.11 , pp. 1033-1040
    • Schleifer, K.J.1    Holtje, H.D.2
  • 30
    • 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: 374-380.
    • (1995) Am J Hum Genet , vol.56 , pp. 374-380
    • Elbaz, A.1    Vale-Santos, J.2    Jurkat-Rott, K.3
  • 31
    • 0001271610 scopus 로고
    • Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations
    • Ohta M, Araki S, Kuroiva Y. Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations. Neurology 1967;17:813-817.
    • (1967) Neurology , vol.17 , pp. 813-817
    • Ohta, M.1    Araki, S.2    Kuroiva, Y.3
  • 32
    • 0027957709 scopus 로고
    • Suppression of sodium channel function in differentiating C2 muscle cells stably overexpressing rat androgen receptors
    • Tabb JS, Fanger GR, Wilson EM, Mauer RA, Henderson LP. Suppression of sodium channel function in differentiating C2 muscle cells stably overexpressing rat androgen receptors. J Neurosci 1994;14:763-773.
    • (1994) J Neurosci , vol.14 , pp. 763-773
    • Tabb, J.S.1    Fanger, G.R.2    Wilson, E.M.3    Mauer, R.A.4    Henderson, L.P.5
  • 34
    • 0014413462 scopus 로고
    • Acetazolamide prophylaxis in hypokalemic periodic paralysis
    • Resnick JS, Engel WK, Griggs RC, Stam AC. Acetazolamide prophylaxis in hypokalemic periodic paralysis. N Engl J Med 1968;278:582-586.
    • (1968) N Engl J Med , vol.278 , pp. 582-586
    • Resnick, J.S.1    Engel, W.K.2    Griggs, R.C.3    Stam, A.C.4
  • 35
    • 0028074978 scopus 로고
    • Ion channel shake-down
    • Ptacek L. Ion channel shake-down. Nat Genet 1994;8:111-112.
    • (1994) Nat Genet , vol.8 , pp. 111-112
    • Ptacek, L.1
  • 36
    • 0030806159 scopus 로고    scopus 로고
    • Phenotype variation and newcomers in ion channel disorders
    • Bulman DE. Phenotype variation and newcomers in ion channel disorders. Hum Mol Genet 1997;6:1679-1685.
    • (1997) Hum Mol Genet , vol.6 , pp. 1679-1685
    • Bulman, D.E.1
  • 37
    • 0026597221 scopus 로고
    • Familial periodic cerebellar ataxia: A problem of cerebellar intracellular pH homeostasis
    • Bain PG, O'Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992;31:147-154.
    • (1992) Ann Neurol , vol.31 , pp. 147-154
    • Bain, P.G.1    O'Brien, M.D.2    Keevil, S.F.3    Porter, D.A.4
  • 38
    • 0029807841 scopus 로고    scopus 로고
    • Acetazolamide responsiveness in familial hemiplegic migraine
    • Athwal BS, Lennox GG. Acetazolamide responsiveness in familial hemiplegic migraine. Ann Neurol 1996;40:820-821.
    • (1996) Ann Neurol , vol.40 , pp. 820-821
    • Athwal, B.S.1    Lennox, G.G.2
  • 39
    • 0030011968 scopus 로고    scopus 로고
    • Familial migraine with vertigo and essential tremor
    • Baloh RW, Foster CA, Yue Q, Nelson SF. Familial migraine with vertigo and essential tremor. Neurology 1996;46:458-460.
    • (1996) Neurology , vol.46 , pp. 458-460
    • Baloh, R.W.1    Foster, C.A.2    Yue, Q.3    Nelson, S.F.4
  • 40
    • 0014818105 scopus 로고
    • Acetazolamide treatment of hypokalemic periodic paralysis: Prevention of attacks and improvement of persistent weakness
    • Griggs RC, Engel WK, Resnick JS. Acetazolamide treatment of hypokalemic periodic paralysis: prevention of attacks and improvement of persistent weakness. Ann Intern Med 1970;73: 39-48.
    • (1970) Ann Intern Med , vol.73 , pp. 39-48
    • Griggs, R.C.1    Engel, W.K.2    Resnick, J.S.3
  • 41
    • 0025775195 scopus 로고
    • Primary structure and functional expression from complementary DNA of a brain calcium channel
    • Mori Y, Friedrich T, Kim MS, et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 1991;350:398-402.
    • (1991) Nature , vol.350 , pp. 398-402
    • Mori, Y.1    Friedrich, T.2    Kim, M.S.3
  • 42
    • 17944387109 scopus 로고    scopus 로고
    • 1A subunit throughout the mature rat brain and its relationship to neurotransmitter pathways
    • 1A subunit throughout the mature rat brain and its relationship to neurotransmitter pathways. J Comp Neurol 1998;397:251-267.
    • (1998) J Comp Neurol , vol.397 , pp. 251-267
    • Graig, P.J.1    McAinsh, A.D.2    McCormack, A.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.