Calcium channelopathies in the central nervous system

被引:54
作者
Jen, J [1 ]
机构
[1] Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90095 USA
关键词
D O I
10.1016/S0959-4388(99)80040-3
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
The recent discovery that familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6 are allelic disorders caused by different mutations in CACNA1A, a calcium-channel-encoding gene, adds to a growing list of channelopathies causing paroxysmal neurologic disturbance and progressive neurodegeneration. Calcium channelopathies in the central nervous system provide a model to study the important roles that calcium channels play in neuronal function.
引用
收藏
页码:274 / 280
页数:7
相关论文
共 54 条
  • [1] EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1
    BROWNE, DL
    GANCHER, ST
    NUTT, JG
    BRUNT, ERP
    SMITH, EA
    KRAMER, P
    LITT, M
    [J]. NATURE GENETICS, 1994, 8 (02) : 136 - 140
  • [2] Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
    Burgess, DL
    Jones, JM
    Meisler, MH
    Noebels, JL
    [J]. CELL, 1997, 88 (03) : 385 - 392
  • [3] Catterall WA, 1997, ADV SEC MESS PHOSPH, V31, P159
  • [4] Molecular properties of sodium and calcium channels
    Catterall, WA
    [J]. JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1996, 28 (03) : 219 - 230
  • [5] Binding of the inward rectifier K+ channel Kir 2.3 to PSD-95 is regulated by protein kinase A phosphorylation
    Cohen, NA
    Brenman, JE
    Snyder, SH
    Bredt, DS
    [J]. NEURON, 1996, 17 (04) : 759 - 767
  • [6] Dove LS, 1998, J NEUROSCI, V18, P7687
  • [7] Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity
    Ducros, A
    Joutel, A
    Vahedi, K
    Cecillon, M
    Ferreira, A
    Bernard, E
    Verier, A
    Echenne, B
    de Munain, AL
    Bousser, MG
    Tournier-Lasserve, E
    [J]. ANNALS OF NEUROLOGY, 1997, 42 (06) : 885 - 890
  • [8] Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
    Ducros, A
    Denier, C
    Joutel, A
    Vahedi, K
    Michel, A
    Darcel, F
    Madigand, M
    Guerouaou, D
    Tison, F
    Julien, J
    Hirsch, E
    Chedru, F
    Bisgård, C
    Lucotte, G
    Després, P
    Billard, C
    Barthez, MA
    Ponsot, G
    Bousser, MG
    Tournier-Lasserve, E
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) : 89 - 98
  • [9] Absence epilepsy in tottering mutant mice is associated with calcium channel defects
    Fletcher, CF
    Lutz, CM
    OSullivan, TN
    Shaughnessy, JD
    Hawkes, R
    Frankel, WN
    Copeland, NG
    Jenkins, NA
    [J]. CELL, 1996, 87 (04) : 607 - 617
  • [10] A new locus for hemiplegic migraine maps to chromosome 1q31
    Gardner, K
    Barmada, MM
    Ptacek, LJ
    Hoffman, EP
    [J]. NEUROLOGY, 1997, 49 (05) : 1231 - 1238