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Volumn 53, Issue 1, 1999, Pages 34-37

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; ATAXIA; BRAIN FUNCTION; CHROMOSOME 19; DISULFIDE BOND; GENE MUTATION; HEMIPLEGIA; HUMAN; HUMAN CELL; MUSCLE WEAKNESS; NEUROTRANSMITTER RELEASE; NONSENSE MUTATION; PEDIGREE; PENETRANCE; PRIORITY JOURNAL;

EID: 0033551468     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.1.34     Document Type: Article
Times cited : (109)

References (26)
  • 1
    • 0028919918 scopus 로고
    • Episodic ataxias as channelopathies
    • Griggs RC, Nutt JG. Episodic ataxias as channelopathies. Ann Neurol 1995;37:285-287.
    • (1995) Ann Neurol , vol.37 , pp. 285-287
    • Griggs, R.C.1    Nutt, J.G.2
  • 2
    • 0028124225 scopus 로고
    • Episodic ataxia/ myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/ myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8: 136-140.
    • (1994) Nat Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3
  • 3
    • 0029120561 scopus 로고
    • Identification of two new KCNA1 mutations in episodic ataxia/myokymia families
    • Browne DL, Burnt ER, Griggs RC, et al. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 1995;4:1671-1672.
    • (1995) Hum Mol Genet , vol.4 , pp. 1671-1672
    • Browne, D.L.1    Burnt, E.R.2    Griggs, R.C.3
  • 4
    • 0029958199 scopus 로고    scopus 로고
    • Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene KV1.1
    • Comu S, Giuliani M, Marayanan V. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene KV1.1. Ann Neurol 1996;40:684-687.
    • (1996) Ann Neurol , vol.40 , pp. 684-687
    • Comu, S.1    Giuliani, M.2    Marayanan, V.3
  • 6
    • 0032557725 scopus 로고    scopus 로고
    • De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
    • Yue Q, Jen JC, Thwe MM, Nelson SF, Baloh RW. De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am J Med Genet 1998;77:298-301.
    • (1998) Am J Med Genet , vol.77 , pp. 298-301
    • Yue, Q.1    Jen, J.C.2    Thwe, M.M.3    Nelson, S.F.4    Baloh, R.W.5
  • 7
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3
  • 8
    • 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
  • 9
    • 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
  • 10
    • 0029026638 scopus 로고
    • Structure and function of voltage-gated iron channels
    • Catterall WA. Structure and function of voltage-gated iron channels. Annu Rev Biochem 1995;64:493-531.
    • (1995) Annu Rev Biochem , vol.64 , pp. 493-531
    • Catterall, W.A.1
  • 11
    • 0030614535 scopus 로고    scopus 로고
    • 2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (1h) mouse
    • 2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (1h) mouse. Cell 1997;88: 385-392.
    • (1997) Cell , vol.88 , pp. 385-392
    • Burgess, D.L.1    Jones, J.M.2    Meisler, M.H.3    Noebels, J.L.4
  • 13
    • 0027454312 scopus 로고
    • Different types of calcium channels mediate central synaptic transmission
    • Takahashi T, Momiyama A. Different types of calcium channels mediate central synaptic transmission. Nature 1993;366: 156-158.
    • (1993) Nature , vol.366 , pp. 156-158
    • Takahashi, T.1    Momiyama, A.2
  • 14
    • 0029942914 scopus 로고    scopus 로고
    • Calcium channel blockers and transmitter release at the normal human neuromuscular junction
    • Protti DA, Reisin R, MacKinley TA, Uchitel OD. Calcium channel blockers and transmitter release at the normal human neuromuscular junction. Neurology 1996;46:1391-1396.
    • (1996) Neurology , vol.46 , pp. 1391-1396
    • Protti, D.A.1    Reisin, R.2    MacKinley, T.A.3    Uchitel, O.D.4
  • 15
    • 0023834353 scopus 로고
    • IgG from patients with Lambert-Eaton syndrome blocks voltage-dependent calcium channels
    • Kim YI, Neher E. IgG from patients with Lambert-Eaton syndrome blocks voltage-dependent calcium channels. Science 1988;239:405-408.
    • (1988) Science , vol.239 , pp. 405-408
    • Kim, Y.I.1    Neher, E.2
  • 16
    • 0029048004 scopus 로고
    • A locus for the nystagmus-associated form of episodic ataxia maps to an 11 cM region on chromosome 19p
    • Kramer PL, Yue Q, Gancher ST, et al. A locus for the nystagmus-associated form of episodic ataxia maps to an 11 cM region on chromosome 19p. Am J Hum Genet 1995;57: 182-185.
    • (1995) Am J Hum Genet , vol.57 , pp. 182-185
    • Kramer, P.L.1    Yue, Q.2    Gancher, S.T.3
  • 17
    • 0344381967 scopus 로고    scopus 로고
    • Autosomal dominant episodic ataxia: Clinical heterogeneity in four families linked to chromosome 19
    • Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: clinical heterogeneity in four families linked to chromosome 19. Ann Neurol 1997;41:8-16.
    • (1997) Ann Neurol , vol.41 , pp. 8-16
    • Gancher, S.T.1    Nutt, J.G.2
  • 18
    • 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
  • 19
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989;86:2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Hayashi, K.3    Sekiya, T.4
  • 20
    • 0031726082 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
    • Jen JC, Yue Q, Karrim J, Nelson SF, Baloh RW. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. J Neurol Neurosurg Psychiatry 1998;65:565-568.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 565-568
    • Jen, J.C.1    Yue, Q.2    Karrim, J.3    Nelson, S.F.4    Baloh, R.W.5
  • 21
    • 0031937509 scopus 로고    scopus 로고
    • Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors
    • Hoffmeyer S, Nurnberg P, Ritter H, et al. Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors. Am J Hum Genet 1998;62:269-277.
    • (1998) Am J Hum Genet , vol.62 , pp. 269-277
    • Hoffmeyer, S.1    Nurnberg, P.2    Ritter, H.3
  • 23
    • 0028841501 scopus 로고
    • Is familial hemiplegic migraine a hereditary form of basilar migraine?
    • Haan, J, Terwindt GM, Ophoff RA, et al. Is familial hemiplegic migraine a hereditary form of basilar migraine? Cephalalgia 1995;15:477-481.
    • (1995) Cephalalgia , vol.15 , pp. 477-481
    • Terwindt, G.M.1    Ophoff, R.A.2
  • 24
    • 0030699138 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations
    • Geschwind DH, Perlman S, Figueroa KP, Marrim J, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology 1997;49:1247-1251.
    • (1997) Neurology , vol.49 , pp. 1247-1251
    • Geschwind, D.H.1    Perlman, S.2    Figueroa, K.P.3    Marrim, J.4    Baloh, R.W.5    Pulst, S.M.6
  • 25
    • 9844263366 scopus 로고    scopus 로고
    • Episodic ataxia type 2 (EA-2) 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 (EA-2) 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.