Role of P/Q calcium channel in familial hemiplegic migraine;Rôle du canal calcique P/Q dans la migraine hémiplé gique familiale

Medecine/Sciences

Volumn 23, Issue 1, 2007, Pages 53-63

  Weiss, Norbert ^a,b,c   Tournier Lasserve, Elisabeth ^a,d   De Waard, Michel ^a,b,c  

^a INSERM   (France)

^b CEA GRENOBLE   (France)

^c UNIV GRENOBLE ALPES   (France)

^d HÔPITAL LARIBOISIÈRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL P TYPE; CALCIUM CHANNEL Q TYPE; PROTEIN CACNA1A; UNCLASSIFIED DRUG;

ASTROCYTE; BIOLOGICAL ACTIVITY; CELL FUNCTION; CHANNELOPATHY; FAMILIAL HEMIPLEGIC MIGRAINE; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; HUMAN; IN VIVO STUDY; NERVE CELL; NEUROTRANSMITTER RELEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; REVIEW; SYNAPTIC TRANSMISSION; SYNAPTOGENESIS;

ANIMALIA;

EID: 33846408325     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/200723153     Document Type: Review

References (44)

1. Ducros A, Tournier-Lasserve E, Bousser MG. The genetics of migraine, Lancet Neurol 2002; 1: 285-93.
2. Joutel A, Bousser MG, Biousse V, et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993; 5: 40-5.
3. 2+ channel gene CACNL1A4. Cell 1996; 87: 543-52.
4. + pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 2003; 33: 192-6.
5. Dichgans M, Freilinger T, Eckstein G, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine, Lancet 2005; 366: 371-7.
6. Joutel A, Ducros A, Vahedi K, et al. Genetic heterogeneity of familial hemiplegic migraine. Am J Hum Genet 1994; 55: 1166-72.
7. Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 2001; 345: 17-24.
8. Jen JC, Kim GW, Dudding KA, Baloh RW. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Arch Neurol 2004; 61: 926-8.
9. Pietrobon D. Function and dysfunction of synoptic calcium channels: insights from mouse models. Curr Opin Neurobiol 2005; 15: 257-65.
10. 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: 62-9.
11. Ertel EA, Campbell KP, Harpold MM, et al. Nomenclature of voltage-gated calcium channels. Neuron 2000; 25: 533-5.
12. 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.
13. Starr TV, Prystay W, Snutch TP. Primary structure of a calcium channel that is highly expressed in the rat cerebellum. Proc Natl Acad Sci USA 1991; 88: 5621-5.
14. Meir A, Ginsburg S, Butkevich A, et al. Ion channels in presynaptic nerve terminals and control of transmitter release. Physiol Rev 1999; 79: 1019-88.
15. Sugiura Y, Woppmann A, Miljanich GP, Ko CP. A novel omega-conopeptide for the presynaptic localization of calcium channels at the mammalian neuromuscular junction. J Neurocytol 1995; 24: 15-27.
16. Lennon VA, Kryzer TJ, Griesmann GE, et al. Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes. N Engl J Med 1995; 332: 1467-74.
17. 2+ channels: role in channel function. Trends Neurosci 1998; 21: 148-54.
18. + channel. Nature 2003; 423: 33-41.
19. Heinemann SH, Terlau H, Stuhmer W, et al. Calcium channel characteristics conferred on the sodium channel by single mutations. Nature 1992; 356: 441-3.
20. 2+ channels. Trends Neurosci 2001; 24: 176-81.
21. Sandoz G, Lopez-Gonzalez I, Stamboulian S, et al. Repositioning of charged I-II loop amino acid residues within the electric field by beta subunit as a novel working hypothesis for the control of fast P/Q calcium channel inactivation. Eur J Neurosci 2004; 19: 1759-72.
22. Goldin AL, Barchi RL, Caldwell JH, et al. Nomenclature of voltage-gated sodium channels. Neuron 2000; 28: 365-8.
23. 2+ channel kinetics. J Biol Chem 1998; 273: 5586-90.
24. 2+ channel kinetics. J Biol Chem 2000; 275: 9239-43.
25. Hans M, Luvisetto S, Williams ME, et al. Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J Neurosci 1999; 19: 1610-9.
26. 2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci USA 2002; 99: 13284-9.
27. Tottene A, Pivotto F, Fellin T, et al. Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma. J Biol Chem 2005; 280: 17678-86.
28. 2+ channel gating: evidence for beta-subunit isoform-specific effects. J Biol Chem 2004; 279: 51844-50.
29. 2+ channel activity and inhibitory synoptic transmission. Proc Natl Acad Sci USA 2005; 102: 2590-5.
30. Ludwig A, Flockerzi V, Hofmann F. Regional expression and cellular localization of the alpha1 and beta subunit of high voltage-activated calcium channels in rat brain. J Neurosci 1997; 17: 1339-49.
31. van den Maagdenberg AM, Pietrobon D, Pizzorusso T, et al. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron 2004; 41: 701-10.
32. 2+ channel function? Trends Pharmacol Sci 2005; 26: 427-36.
33. Melliti K, Grabner M, Seabrook GR. The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Ca(V)2.1) calcium channels expressed in human embryonic kidney cells. J Physiol 2003; 546: 337-47.
34. Dallel R, Villanueva L, Woda A, Voisin D. Neurobiology of trigeminal pain. Med Sci (Paris) 2003; 19: 567-74.
35. Lauritzen M. Pathophysiology of the migraine aura. The spreading depression theory. Brain 1994; 117: 199-210.
36. Strong AJ, Fabricius M, Bautelle MG, et al. Spreading and synchronous depressions of cortical activity in acutely injured human brain. Strode 2002; 33: 2738-43.
37. Parsons AA. Cortical spreading depression: its role in migraine pathogenesis and possible therapeutic intervention strategies. Curr Pain Headache Rep 2004; 8: 410-6.
38. Magistretti PJ, Pellerin L, Rothman DL, Shulman RG. Energy on demand. Science 1999; 283: 496-7.
39. Kors EE, Terwindt GM, Vermeulen FL, et al. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol 2001; 49: 753-60.
40. Battistini S, Stenirri S, Piotti M, et al. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Neurology 1999; 53: 38-43.
41. Alonso I, Barros J, Tuna A, et al. A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Clin Genet 2004; 65: 70-2.
42. Vahedi K, Denier C, Ducros A, et al. CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Neurology 2000; 55: 1040-2.
43. Carrera P, Piatti M, Stenirri S, et al. Genetic heterogeneity in Italian families with familial hemiplegic migraine. Neurology 1999; 53: 26-33.
44. Kors EE, Melberg A, Vanmolkot KR, et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology 2004; 63: 1136-7.