The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

CACNA1A  -  calcium channel, voltage-dependent, P/Q...

Homo sapiens

Synonyms: APCA, BI, Brain calcium channel I, CACH4, CACN3, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of CACNA1A


Psychiatry related information on CACNA1A

  • Migraine is an episodic pain disorder whose pathophysiology is related to deficiency of serotonin signaling and abnormal function of the P/Q-type calcium channel, CACNA1A [4].
  • Criterion validity was assessed against an independent structured mental health professional (MHP) interview in a sample of 580 patients [5].
  • Patients with a MHP involved in their care were much more likely to present with psychosis and suicidal ideation in the absence of deliberate self-harm [6].
  • 34 patients, suffered from a severe brain injury (BI) 4 to 8 years ago, were reexamined by a psychological test battery and by evaluating of QOL (using self developed items for private and social activity) [7].

High impact information on CACNA1A


Chemical compound and disease context of CACNA1A


Biological context of CACNA1A


Anatomical context of CACNA1A


Associations of CACNA1A with chemical compounds


Other interactions of CACNA1A


Analytical, diagnostic and therapeutic context of CACNA1A

  • The CACNA1A gene was screened by heteroduplex analysis and sequencing for mutations [35].
  • To determine whether the CACNA1A gene was implicated in typical migraine susceptibility in the general Caucasian population, we also analyzed 82 independent pedigrees and a large case control group [36].
  • Patients with congenital presynaptic failure, including two patients with episodic ataxia type 2 (EA-2) due to CACNA1A mutations, were studied with muscle biopsy, microelectrode studies, electron microscopy, DNA amplification, and sequencing [21].
  • The disease-free survival curve of SCA6 was different from that of other SCAs and the mean age at onset for SCA6 was found to be later than that of the other types [37].
  • METHODS: We screened 27 patients with SHM for mutations in the CACNA1A gene by a combination of single-strand conformational polymorphism analysis and sequence analysis [38].


  1. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. van den Maagdenberg, A.M., Pietrobon, D., Pizzorusso, T., Kaja, S., Broos, L.A., Cesetti, T., van de Ven, R.C., Tottene, A., van der Kaa, J., Plomp, J.J., Frants, R.R., Ferrari, M.D. Neuron (2004) [Pubmed]
  2. Significant linkage to migraine with aura on chromosome 11q24. Cader, Z.M., Noble-Topham, S., Dyment, D.A., Cherny, S.S., Brown, J.D., Rice, G.P., Ebers, G.C. Hum. Mol. Genet. (2003) [Pubmed]
  3. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Subramony, S.H., Schott, K., Raike, R.S., Callahan, J., Langford, L.R., Christova, P.S., Anderson, J.H., Gomez, C.M. Ann. Neurol. (2003) [Pubmed]
  4. The voltage-gated calcium channel UNC-2 is involved in stress-mediated regulation of tryptophan hydroxylase. Estevez, M., Estevez, A.O., Cowie, R.H., Gardner, K.L. J. Neurochem. (2004) [Pubmed]
  5. The Patient Health Questionnaire-2: validity of a two-item depression screener. Kroenke, K., Spitzer, R.L., Williams, J.B. Medical care. (2003) [Pubmed]
  6. Psychiatry at the front line: CPNs working outside regular hours in an inner-city A&E department. McEvoy, P. Journal of psychiatric and mental health nursing. (1998) [Pubmed]
  7. Efficiency of the Glasgow Outcome Scale (GOS)-Score for the long-term follow-up after severe brain injuries. Woischneck, D., Firsching, R. Acta Neurochir. Suppl. (1998) [Pubmed]
  8. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Gros-Louis, F., Dupr??, N., Dion, P., Fox, M.A., Laurent, S., Verreault, S., Sanes, J.R., Bouchard, J.P., Rouleau, G.A. Nat. Genet. (2007) [Pubmed]
  9. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. Ducros, A., Denier, C., Joutel, A., Cecillon, M., Lescoat, C., Vahedi, K., Darcel, F., Vicaut, E., Bousser, M.G., Tournier-Lasserve, E. N. Engl. J. Med. (2001) [Pubmed]
  10. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y., Lee, C.C. Nat. Genet. (1997) [Pubmed]
  11. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Ophoff, R.A., Terwindt, G.M., Vergouwe, M.N., van Eijk, R., Oefner, P.J., Hoffman, S.M., Lamerdin, J.E., Mohrenweiser, H.W., Bulman, D.E., Ferrari, M., Haan, J., Lindhout, D., van Ommen, G.J., Hofker, M.H., Ferrari, M.D., Frants, R.R. Cell (1996) [Pubmed]
  12. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Kors, E.E., Terwindt, G.M., Vermeulen, F.L., Fitzsimons, R.B., Jardine, P.E., Heywood, P., Love, S., van den Maagdenberg, A.M., Haan, J., Frants, R.R., Ferrari, M.D. Ann. Neurol. (2001) [Pubmed]
  13. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. Battistini, S., Stenirri, S., Piatti, M., Gelfi, C., Righetti, P.G., Rocchi, R., Giannini, F., Battistini, N., Guazzi, G.C., Ferrari, M., Carrera, P. Neurology (1999) [Pubmed]
  14. Myeloperoxidase polymorphisms in brain infarction. Association with infarct size and functional outcome. Hoy, A., Leininger-Muller, B., Poirier, O., Siest, G., Gautier, M., Elbaz, A., Amarenco, P., Visvikis, S. Atherosclerosis (2003) [Pubmed]
  15. Prognosis in threatened abortion evaluated by hormone assays and ultrasound scanning. Eriksen, P.S., Philipsen, T. Obstetrics and gynecology. (1980) [Pubmed]
  16. Effect of taurine on gastric oxidative stress and hemorrhagic erosion in brain ischemic rats. Hung, C.R. The Chinese journal of physiology. (2006) [Pubmed]
  17. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Vanmolkot, K.R., Kors, E.E., Hottenga, J.J., Terwindt, G.M., Haan, J., Hoefnagels, W.A., Black, D.F., Sandkuijl, L.A., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2003) [Pubmed]
  18. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Jen, J.C., Kim, G.W., Dudding, K.A., Baloh, R.W. Arch. Neurol. (2004) [Pubmed]
  19. Recent findings in headache genetics. Kors, E.E., Vanmolkot, K.R., Haan, J., Frants, R.R., van den Maagdenberg, A.M., Ferrari, M.D. Curr. Opin. Neurol. (2004) [Pubmed]
  20. A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Spadaro, M., Ursu, S., Lehmann-Horn, F., Liana, V., Giovanni, A., Paola, G., Frontali, M., Jurkat-Rott, K. Neurogenetics (2004) [Pubmed]
  21. Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission. Maselli, R.A., Books, W., Dunne, V. Ann. N. Y. Acad. Sci. (2003) [Pubmed]
  22. The hereditary ataxias. Koeppen, A.H. J. Neuropathol. Exp. Neurol. (1998) [Pubmed]
  23. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Ishikawa, K., Fujigasaki, H., Saegusa, H., Ohwada, K., Fujita, T., Iwamoto, H., Komatsuzaki, Y., Toru, S., Toriyama, H., Watanabe, M., Ohkoshi, N., Shoji, S., Kanazawa, I., Tanabe, T., Mizusawa, H. Hum. Mol. Genet. (1999) [Pubmed]
  24. Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A. Wiest, G., Tian, J.R., Baloh, R.W., Crane, B.T., Demer, J.L. Brain (2001) [Pubmed]
  25. Triple stimulation technique in patients with spinocerebellar ataxia type 6. Sakuma, K., Adachi, Y., Fukuda, H., Kai, T., Nakashima, K. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2005) [Pubmed]
  26. Recent advances in understanding migraine mechanisms, molecules and therapeutics. Goadsby, P.J. Trends in molecular medicine (2007) [Pubmed]
  27. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Jen, J.C., Wan, J., Palos, T.P., Howard, B.D., Baloh, R.W. Neurology (2005) [Pubmed]
  28. Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6. Matsuyama, Z., Yanagisawa, N.K., Aoki, Y., Black, J.L., Lennon, V.A., Mori, Y., Imoto, K., Inuzuka, T. Neurobiol. Dis. (2004) [Pubmed]
  29. Pharmacological treatments of cerebellar ataxia. Ogawa, M. Cerebellum (2004) [Pubmed]
  30. CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Vahedi, K., Denier, C., Ducros, A., Bousson, V., Levy, C., Chabriat, H., Haguenau, M., Tournier-Lasserve, E., Bousser, M.G. Neurology (2000) [Pubmed]
  31. Genetics of familial episodic vertigo and ataxia. Baloh, R.W., Jen, J.C. Ann. N. Y. Acad. Sci. (2002) [Pubmed]
  32. Pharmacogenomics: state of the research and perspectives in clinical application. Severino, G., Chillotti, C., Stochino, M.E., Del Zompo, M. Neurol. Sci. (2003) [Pubmed]
  33. The genetic spectrum of a population-based sample of familial hemiplegic migraine. Thomsen, L.L., Kirchmann, M., Bjornsson, A., Stefansson, H., Jensen, R.M., Fasquel, A.C., Petursson, H., Stefansson, M., Frigge, M.L., Kong, A., Gulcher, J., Stefansson, K., Olesen, J. Brain (2007) [Pubmed]
  34. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Chioza, B., Wilkie, H., Nashef, L., Blower, J., McCormick, D., Sham, P., Asherson, P., Makoff, A.J. Neurology (2001) [Pubmed]
  35. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Spacey, S.D., Materek, L.A., Szczygielski, B.I., Bird, T.D. Arch. Neurol. (2005) [Pubmed]
  36. Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility. Lea, R.A., Curtain, R.P., Hutchins, C., Brimage, P.J., Griffiths, L.R. Am. J. Med. Genet. (2001) [Pubmed]
  37. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. Maruyama, H., Izumi, Y., Morino, H., Oda, M., Toji, H., Nakamura, S., Kawakami, H. Am. J. Med. Genet. (2002) [Pubmed]
  38. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Terwindt, G., Kors, E., Haan, J., Vermeulen, F., Van den Maagdenberg, A., Frants, R., Ferrari, M. Arch. Neurol. (2002) [Pubmed]
WikiGenes - Universities