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Volumn 87, Issue 3, 1996, Pages 543-552

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM ION; DINUCLEOTIDE; TRINUCLEOTIDE;

EID: 16044370232     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)81373-2     Document Type: Article
Times cited : (2193)

References (49)
  • 1
    • 0022333103 scopus 로고
    • Calcium antogonist properties of magnesium: Implications for antimigraine actions
    • Altura, B.M. (1985). Calcium antogonist properties of magnesium: implications for antimigraine actions. Magnesium 4, 169-175.
    • (1985) Magnesium , vol.4 , pp. 169-175
    • Altura, B.M.1
  • 2
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne, D.L., Gancher S.T., Nutt, J.G., Brunt, E.R., Smith, E.A., Kramer, P., and Litt, M. (1994). Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 8, 136-140.
    • (1994) Nat. Genet. , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3    Brunt, E.R.4    Smith, E.A.5    Kramer, P.6    Litt, M.7
  • 4
    • 0023730471 scopus 로고
    • The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel
    • Campbell, K.P., Leung, A.T., and Sharp, A.H. (1988). The biochemistry and molecular biology of the dihydropyridine-sensitive calcium channel. Trends Neurosci. 11, 425-430.
    • (1988) Trends Neurosci. , vol.11 , pp. 425-430
    • Campbell, K.P.1    Leung, A.T.2    Sharp, A.H.3
  • 5
    • 0030068496 scopus 로고    scopus 로고
    • Ion-channel defects and aberrant excitability in myotonia and periodic paralysis
    • Cannon, S.C. (1996) Ion-channel defects and aberrant excitability in myotonia and periodic paralysis. Trends Neurosci. 19, 3-10.
    • (1996) Trends Neurosci. , vol.19 , pp. 3-10
    • Cannon, S.C.1
  • 6
    • 0023277545 scopus 로고
    • Single step method of RNA isolation by acid guanidium thiocyanate phenol chloroform extraction
    • Chomczynski, P., and Sacchi, N. (1987). Single step method of RNA isolation by acid guanidium thiocyanate phenol chloroform extraction. Anal. Biochem. 162, 156-159.
    • (1987) Anal. Biochem. , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 7
    • 0027369654 scopus 로고
    • Calcium channel subtypes controlling serotonin release from human small cell lung carcinoma cell lines
    • Codignola, A., Tarroni, P., Clementi, F., Pollo, A., Lovallo, M., Carbone, E., and Sher, E. (1993). Calcium channel subtypes controlling serotonin release from human small cell lung carcinoma cell lines. J. Biol. Chem. 268, 26240-26247.
    • (1993) J. Biol. Chem. , vol.268 , pp. 26240-26247
    • Codignola, A.1    Tarroni, P.2    Clementi, F.3    Pollo, A.4    Lovallo, M.5    Carbone, E.6    Sher, E.7
  • 8
    • 0029689693 scopus 로고    scopus 로고
    • Structural and functional diversity of voltage-activated calcium channels
    • T. Narahashi, ed. (New York: Plenum Press)
    • De Waard, M., Gurnett, C.A., and Campbell, K.P. (1996). Structural and functional diversity of voltage-activated calcium channels. In Ion Channels, Volume 4, T. Narahashi, ed. (New York: Plenum Press).
    • (1996) Ion Channels , vol.4
    • De Waard, M.1    Gurnett, C.A.2    Campbell, K.P.3
  • 10
    • 0030052699 scopus 로고    scopus 로고
    • Familial Hemiplegic Migraine, nystagmus, and cerebellar atrophy
    • Elliott, M.A., Peroutka, S.J., Welch, S., and May, E.F. (1996). Familial Hemiplegic Migraine, nystagmus, and cerebellar atrophy. Ann. Neurol. 39, 100-106.
    • (1996) Ann. Neurol. , vol.39 , pp. 100-106
    • Elliott, M.A.1    Peroutka, S.J.2    Welch, S.3    May, E.F.4
  • 11
    • 0027258572 scopus 로고
    • On serotonin and migraine: A clinical and pharmacological review
    • Ferrari, M.D., and Saxena, P.R. (1993). On serotonin and migraine: a clinical and pharmacological review. Cephalalgia. 13, 151-165.
    • (1993) Cephalalgia , vol.13 , pp. 151-165
    • Ferrari, M.D.1    Saxena, P.R.2
  • 12
    • 85005302491 scopus 로고
    • 5-HT1 receptors in migraine pathophysiology and treatment
    • Ferrari, M.D., and Saxena, P.R. (1995). 5-HT1 receptors in migraine pathophysiology and treatment. Eur. J. Neurol. 2, 5-21.
    • (1995) Eur. J. Neurol. , vol.2 , pp. 5-21
    • Ferrari, M.D.1    Saxena, P.R.2
  • 14
    • 0028919918 scopus 로고
    • Episodic ataxias as channelopathies
    • Griggs, R.C., and Nutt, J.G. (1995). Episodic ataxias as channelopathies. Ann. Neur. 37, 285-286.
    • (1995) Ann. Neur. , vol.37 , pp. 285-286
    • Griggs, R.C.1    Nutt, J.G.2
  • 15
    • 0029690882 scopus 로고    scopus 로고
    • Three-dimensional models of ion channel proteins
    • T. Narahashi, ed. (New York, Plenum Press)
    • Guy, H.R., and Durell, S.R. (1996). Three-dimensional models of ion channel proteins. In Ion Channels, Volume 4, T. Narahashi, ed. (New York, Plenum Press).
    • (1996) Ion Channels , vol.4
    • Guy, H.R.1    Durell, S.R.2
  • 16
    • 1842391299 scopus 로고    scopus 로고
    • Genetics of migraine
    • N.T. Mathew, ed. (Philadelphia, PA: W.B. Saunders), in press
    • Haan, J., Terwindt, G.M., and Ferrari, M.D. (1996). Genetics of migraine. In Advances in Headache, N.T. Mathew, ed. (Philadelphia, PA: W.B. Saunders), in press.
    • (1996) Advances in Headache
    • Haan, J.1    Terwindt, G.M.2    Ferrari, M.D.3
  • 17
    • 0009640679 scopus 로고    scopus 로고
    • Quantification of specific nucleic acids, regulated RNA processing and genomic polymorphisms using reversed-phase HPLC
    • F. Ferr, ed. (Basel, Switzerland: Birkhuser Verlag)
    • Hayward-Lester, A., Chilton, B.S., Underhill, P.A., Oefner, P.J., and Doris, P.A. (1996) Quantification of specific nucleic acids, regulated RNA processing and genomic polymorphisms using reversed-phase HPLC. In Gene Quantification, F. Ferr, ed. (Basel, Switzerland: Birkhuser Verlag).
    • (1996) Gene Quantification
    • Hayward-Lester, A.1    Chilton, B.S.2    Underhill, P.A.3    Oefner, P.J.4    Doris, P.A.5
  • 18
    • 0002882576 scopus 로고
    • Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain
    • Headache Classification Committee of the International Headache Society (1988). Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia 8, 19-28.
    • (1988) Cephalalgia , vol.8 , pp. 19-28
  • 19
    • 11944275017 scopus 로고
    • Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated nonporous poly(styrene-divinylbenzene) particles
    • Huber, C.G., Oefner, P.J., and Bonn, G.K. (1995) Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated nonporous poly(styrene-divinylbenzene) particles. Anal. Chem. 67, 578-585.
    • (1995) Anal. Chem. , vol.67 , pp. 578-585
    • Huber, C.G.1    Oefner, P.J.2    Bonn, G.K.3
  • 20
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 21
    • 0028970139 scopus 로고
    • The skeletal muscle sodium and chloride channel diseases
    • Hudson, A.J., Ebers, G.C., and Bulman, D.E. (1995). The skeletal muscle sodium and chloride channel diseases. Brain 118, 547-563.
    • (1995) Brain , vol.118 , pp. 547-563
    • Hudson, A.J.1    Ebers, G.C.2    Bulman, D.E.3
  • 26
    • 0002441313 scopus 로고    scopus 로고
    • Pathophysiology of the migraine aura
    • Lauritzen, M. (1996). Pathophysiology of the migraine aura. Sci. Med. 3, 32-41.
    • (1996) Sci. Med. , vol.3 , pp. 32-41
    • Lauritzen, M.1
  • 29
    • 0025775195 scopus 로고
    • Primary structure and functional expression from complementary DNA of a brain calcium channel
    • Mori, Y., Friedrich, T., Kim. M.S., Mikami, A., Nakai., J., Ruth, P., Bosse, E., Hofmann, F., Flockerzi, V., Furuichi, T., et al. (1991). Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350, 398-402.
    • (1991) Nature , vol.350 , pp. 398-402
    • Mori, Y.1    Friedrich, T.2    Kim, M.S.3    Mikami, A.4    Ruth, P.5    Bosse, E.6    Hofmann, F.7    Flockerzi, V.8    Furuichi, T.9
  • 30
    • 0026683693 scopus 로고
    • Neurogenic versus vascular mechanism of sumatriptan and ergot alkaloids in migraine
    • Moskowitz, M.A. (1992). Neurogenic versus vascular mechanism of sumatriptan and ergot alkaloids in migraine. Trends Pharmacol. Sci. 13, 307-311.
    • (1992) Trends Pharmacol. Sci. , vol.13 , pp. 307-311
    • Moskowitz, M.A.1
  • 31
    • 0000520709 scopus 로고
    • Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC)
    • Oefner, P.J., and Underhill, P.A. (1995). Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am. J. Hum. Genet. 57 [Suppl.], A266.
    • (1995) Am. J. Hum. Genet. , vol.57 , Issue.SUPPL.
    • Oefner, P.J.1    Underhill, P.A.2
  • 34
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T., and Hayashi, K. (1989). Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 36
    • 0030012547 scopus 로고    scopus 로고
    • Prophylaxis of migraine with oral magnesium: Results from a prospective, multi-center, placebo-controlled and double-blind randomized study
    • Peikert, A., Wilimzig, C., and Köhne-Volland, R. (1996). Prophylaxis of migraine with oral magnesium: results from a prospective, multi-center, placebo-controlled and double-blind randomized study. Cephalalgia 16, 257-263.
    • (1996) Cephalalgia , vol.16 , pp. 257-263
    • Peikert, A.1    Wilimzig, C.2    Köhne-Volland, R.3
  • 40
    • 0028198386 scopus 로고
    • Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    • Ravnik-Glavac, M., Glavac, D., and Dean, M. (1994). Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum. Mol. Genet. 3, 801-807.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 801-807
    • Ravnik-Glavac, M.1    Glavac, D.2    Dean, M.3
  • 41
    • 0029119352 scopus 로고
    • Increased familial risk and evidence of genetic factor in migraine
    • Russell, M.B., and Olesen, J. (1995). Increased familial risk and evidence of genetic factor in migraine. Br. Med. J. 311, 541-544.
    • (1995) Br. Med. J. , vol.311 , pp. 541-544
    • Russell, M.B.1    Olesen, J.2
  • 43
    • 0025947433 scopus 로고
    • Primary structure of a calcium channel that is highly expressed in the rat cerebellum
    • Starr, T.V.B., Prystay, W., and Snutch, T. (1991). Primary structure of a calcium channel that is highly expressed in the rat cerebellum. Proc. Natl. Acad. Sci. USA 88, 5621-5625.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 5621-5625
    • Starr, T.V.B.1    Prystay, W.2    Snutch, T.3
  • 47
    • 0030013798 scopus 로고    scopus 로고
    • Familial hemiplegic migraine: A clinical comparison of families linked and unlinked to chromosome 19
    • Terwindt, G.M., Ophoff, R.A., Haan, J., Frants, R.R., and Ferrari, M.D. (1996). Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19. Cephalagia 16, 153-155.
    • (1996) Cephalagia , vol.16 , pp. 153-155
    • Terwindt, G.M.1    Ophoff, R.A.2    Haan, J.3    Frants, R.R.4    Ferrari, M.D.5
  • 48
    • 0028920029 scopus 로고
    • Mapping the gene for acetozolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
    • Von Brederlow, B., Hahn, A.F., Koopman, W.J., Ebers, G.C., and Bulman, D. (1995). Mapping the gene for acetozolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum. Mol. Genet. 2, 279-284
    • (1995) Hum. Mol. Genet. , vol.2 , pp. 279-284
    • Von Brederlow, B.1    Hahn, A.F.2    Koopman, W.J.3    Ebers, G.C.4    Bulman, D.5
  • 49
    • 0026546029 scopus 로고
    • Magnesium regulates intracellular free ionized calcium concentration and cell geometry in vascular smooth muscle cell. Biochem
    • Zhang, A., Cheng, T.P.O., and Altura, B.M. (1992). Magnesium regulates intracellular free ionized calcium concentration and cell geometry in vascular smooth muscle cell. Biochem. Biophys. Acta 1134, 25-29.
    • (1992) Biophys. Acta , vol.1134 , pp. 25-29
    • Zhang, A.1    Cheng, T.P.O.2    Altura, B.M.3


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