| 1 | CACNA1A, MHP1
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| Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions
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| Duque KR, Marsili L, Sturchio A, Mahajan A, Merola A, Espay AJ, Kauffman MA.
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| Cerebellum Feb;20(1):134-139. doi: 10.1007/s12311-020-01185-9. Epub 2020 Sep 5. 2021
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| 2 | CACNA1A, EA2
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| A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
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| Penkava J, Ledderose S, Chahrokh-Zadeh S, Munzig A, Eulenburg Z, Huppert D, Strupp M, Becker-Bense S.
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| J Neurol. Dec;267(Suppl 1):181-184. doi: 10.1007/s00415-020-10190-1. Epub 2020 Sep 10. 2020
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| 3 | BPTI, CACNA1A
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| A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia
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| Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y.
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| J Neurol Sci. Apr 15;399:214-216. doi: 10.1016/j.jns.2019.02.040. Epub 2019 Mar 1. 2019
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| 4 | CACNA1A, MHP1
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| Ultrastructural changes in microvessels in familial hemiplegic migraine with CACNA1A mutation
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| Dziewulska D, Kierdaszuk B.
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| Clin Neuropathol. Nov/Dec;37(6):283-287. doi: 10.5414/NP300619. 2018
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| 5 | CACNA1A, EA2
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| Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
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| Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G.
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| Eur J Paediatr Neurol. May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. 2017
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| 6 | CACNA1A, EIEE41, EIEE42, EIEE43, GABRB3, SLC1A2
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| De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
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| Epi4K Consortium.
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| Am J Hum Genet 99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28. 2016
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| 7 | CACNA1A, EIEE42
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| Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
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| Reinson K, Őiglane-Shlik E, Talvik I, Vaher U, Őunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Őunap K.
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| Am J Med Genet A. Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2 2016
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| 8 | CACNA1A, CACNA1B, GHSR
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| Constitutive and ghrelin-dependent GHSR1a activation impairs CaV2.1 and CaV2.2 currents in hypothalamic neurons.
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| López Soto EJ, Agosti F, Cabral A, Mustafa ER, Damonte VM, Gandini MA, Rodríguez S, Castrogiovanni D, Felix R, Perelló M, Raingo J.
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| J Gen Physiol 146(3):205-19. doi: 10.1085/jgp.201511383.
2015
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| 9 | CACNA1A, EIEE42
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| CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
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| Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E.
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| Eur J Hum Genet. Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4. 2015
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| 10 | BSN, CACNA1A
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| Bassoon specifically controls presynaptic P/Q-type Ca(2+) channels via RIM-binding protein.
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| Davydova D, Marini C, King C, Klueva J, Bischof F, Romorini S, Montenegro-Venegas C, Heine M, Schneider R, Schröder MS, Altrock WD, Henneberger C, Rusakov DA, Gundelfinger ED, Fejtova A.
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| Neuron 82(1):181-94. doi: 10.1016/j.neuron.2014.02.012.
2014
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| 11 | CACNA1A, CACNA1B, CACNA1E
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| Distinct roles for Cav2.1-2.3 in activity-dependent synaptic dynamics.
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| Ricoy UM, Frerking ME.
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| J Neurophysiol 111(12):2404-13. doi: 10.1152/jn.00335.2013. Epub 2014 Feb 12.
2014
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| 12 | CACNA1A, EIEE42
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| De novo mutations in epileptic encephalopathies.
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| Epi4K Consortium.
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| Nature 501(7466):217-21. doi: 10.1038/nature12439.
2013
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| 13 | CACNA1A
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| Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6
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| Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM.
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| Cell. Jul 3;154(1):118-33. doi: 10.1016/j.cell.2013.05.059. 2013
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| 14 | CACNA1A, SCA6
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| Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6.
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| Unno T, Wakamori M, Koike M, Uchiyama Y, Ishikawa K, Kubota H, Yoshida T, Sasakawa H, Peters C, Mizusawa H, Watase K.
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| Proc Natl Acad Sci U S A 109(43):17693-8. doi: 10.1073/pnas.1212786109. Epub 2012 Oct 10.
2012
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| 15 | CACNA1A, HPCAL4
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| Molecular determinants of modulation of CaV2.1 channels by visinin-like protein 2.
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| Nanou E, Martinez GQ, Scheuer T, Catterall WA.
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| J Biol Chem 287(1):504-13. doi: 10.1074/jbc.M111.292581. Epub 2011 Nov 10.
2012
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| 16 | CACNA1A, CALB2
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| Calretinin regulates Ca2+-dependent inactivation and facilitation of Ca(v)2.1 Ca2+ channels through a direct interaction with the α12.1 subunit.
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| Christel CJ, Schaer R, Wang S, Henzi T, Kreiner L, Grabs D, Schwaller B, Lee A.
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| J Biol Chem 287(47):39766-75. doi: 10.1074/jbc.M112.406363. Epub 2012 Oct 2.
2012
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| 17 | BSN, CACNA1A, CACNA1B
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| Active zone protein Bassoon co-localizes with presynaptic calcium channel, modifies channel function, and recovers from aging related loss by exercise.
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| Nishimune H, Numata T, Chen J, Aoki Y, Wang Y, Starr MP, Mori Y, Stanford JA.
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| PLoS One 7(6):e38029. doi: 10.1371/journal.pone.0038029. Epub 2012 Jun 6.
2012
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| 18 | ATXN7, CACNA1A, CRIM1
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| Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
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| Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY.
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| Hum Mol Genet. 20(3):510-27. 2011
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| 19 | CACNA1A
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| High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
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| van den Maagdenberg, A. M. J. M., Pizzorusso, T., Kaja, S., Terpolilli, N., Shapovalova, M., Hoebeek, F. E., Barrett, C. F., Gherardini, L., van de Ven, R. C. G., Todorov, B., Broos, L. A. M., Tottene, A., Gao, Z., Fodor, M., De Zeeuw, C. I., Frants, R. R., Plesnila, N., Plomp, J. J., Pietrobon, D., Ferrari, M. D.
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| Ann. Neurol. 67: 85-98 2010
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| 20 | CACNA1A, CACNA1B, NOVA2
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| The neuronal splicing factor Nova controls alternative splicing in N-type and P-type CaV2 calcium channels.
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| Allen SE, Darnell RB, Lipscombe D.
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| Channels (Austin) 4(6):483-9. Epub 2010 Nov 1. Review.
2010
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| 21 | CACNA1A, EA1, EA2, EA3, EA4, EA5, EA6, EAAT1, KCNA1, SCA6
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| Late onset hereditary episodic ataxia.
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| Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.
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| J Neurol Neurosurg Psychiatry 80(5):566-8.
2009
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| 22 | CACNA1A
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| Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
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| Self J, Mercer C, Boon EM, Murugavel M, Shawkat F, Hammans S, Hodgkins P, Griffiths H, Lotery A.
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| Eye (Lond). 23(12):2251-5. 2009
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| 23 | CACNA1A
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| Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.
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| Eikermann-Haerter, K., Dilekoz, E., Kudo, C., Savitz, S. I., Waeber, C., Baum, M. J., Ferrari, M. D., van den Maagdenberg, A. M. J. M., Moskowitz, M. A., Ayata, C.
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| J. Clin. Invest. 119: 99-109 2009
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| 24 | CACNA1A, SCA6
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| Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
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| Craig K, Takiyama Y, Soong BW, Jardim LB, Saraiva-Pereira ML, Lythgow K, Morino H, Maruyama H, Kawakami H, Chinnery PF.
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| Eur J Hum Genet 16(7):841-7. Epub 2008 Feb 20.
2008
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| 25 | CACNA1A, MHP1
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| CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
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| Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM.
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| Clin Genet 74(5):481-5. Epub 2008 Apr 8.
2008
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| 26 | CACNA1A
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| Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant Ca(v)2.1 channels.
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| Watase, K., Barrett, C. F., Miyazaki, T., Ishiguro, T., Ishikawa, K., Hu, Y., Unno, T., Sun, Y., Kasai, S., Watanabe, M., Gomez, C. M., Mizusawa, H., Tsien, R. W., Zoghbi, H. Y.
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| Proc. Nat. Acad. Sci. 105: 11987-11992 2008
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| 27 | CACNA1A
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| Enhanced circadian phase resetting in R192Q Cav2.1 calcium channel migraine mice.
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| van Oosterhout, F., Michel, S., Deboer, T., Houben, T., van de Ven, R. C. G., Albus, H., Westerhout, J., Vansteensel, M. J., Ferrari, M. D., van den Maagdenberg, A. M. J. M., Meijer, J. H.
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| Ann. Neurol. 64: 315-324 2008
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| 28 | CACNA1A, EA2
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| Axonal function in a family with episodic ataxia type 2 due to a novel mutation.
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| Krishnan AV, Bostock H, Ip J, Hayes M, Watson S, Kiernan MC.
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| J Neurol 255(5):750-5. Epub 2008 Mar 14.PMID: 18338196 2008
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| 29 | CACNA1A, SCA6
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| Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.
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| Saegusa H, Wakamori M, Matsuda Y, Wang J, Mori Y, Zong S, Tanabe T.
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| Mol Cell Neurosci 34(2):261-70. Epub 2006 Dec 22.
2007
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| 30 | CACNA1A, EA1, EA2, KCNA1
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| Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
| Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators.
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| Brain 130(Pt 10):2484-93. Epub 2007 Jun 15. Review. 2007
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| 31 | CACNA1A
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| Gamma-band deficiency and abnormal thalamocortical activity in P/Q-type channel mutant mice.
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| Llinás RR, Choi S, Urbano FJ, Shin HS.
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| Proc Natl Acad Sci U S A. 104(45):17819-24. 2007
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| 32 | CACNA1A, CACNA1B
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| Differential regulation of endogenous N- and P/Q-type Ca2+ channel inactivation by Ca2+/calmodulin impacts on their ability to support exocytosis in chromaffin cells.
|
| Wykes RC, Bauer CS, Khan SU, Weiss JL, Seward EP.
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| J Neurosci 27(19):5236-48.
2007
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| 33 | SCA1, ATXN1, SCA2, ATXN2, MJD, ATXN3, SCA6, CACNA1A, SCA7, ATXN7, SCA17, TBP, DRPLA, ATN1, SBMA, AR
|
| Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
|
| Helmlinger D, Tora L, Devys D.
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| Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
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| 34 | EA2, CACNA1A
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| Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
|
| Spacey SD, Materek LA, Szczygielski BI, Bird TD.
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| Arch Neurol 62(2):314-6. 2005
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| 35 | MHP1, CACNA1A
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| Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission.
|
| Cao YQ, Tsien RW.
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| Proc Natl Acad Sci U S A 102(7):2590-5. Epub 2005 Feb 7. 2005
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| 36 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
|
| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 37 | CACNA1A, EA2
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| CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
|
| Wan J, Khanna R, Sandusky M, Papazian DM, Jen JC, Baloh RW.
|
| Neurology 64(12):2090-7. 2005
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| 38 | CACNA1A,EA2
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| Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
|
| Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG.
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| Neurology 65(6):944-6. 2005
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| 39 | ATXN2,CACNA1A,SCA2
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| Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.
|
| Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP.
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| Brain 128(Pt 10):2297-303. Epub 2005 Jul 6. 2005
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| 40 | CACNA1A, HPCAL4
|
| Differential regulation of CaV2.1 channels by calcium-binding protein 1 and visinin-like protein-2 requires N-terminal myristoylation.
|
| Few AP, Lautermilch NJ, Westenbroek RE, Scheuer T, Catterall WA.
|
| J Neurosci 25(30):7071-80.
2005
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| 41 | CACNA1A, SCA6
|
| Molecular epidemiology of spinocerebellar ataxia type 6.
|
| Craig K, Keers SM, Archibald K, Curtis A, Chinnery PF.
|
| Ann Neurol 55(5):752-5. 2004
|
| 42 | CACNA1A, EA2, MHP1
|
| Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
|
| Mullner C, Broos LA, van den Maagdenberg AM, Striessnig J.
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| J Biol Chem 279(50):51844-50. Epub 2004 Sep 23. 2004
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| 43 | CACNA1A
|
| A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
|
| van den Maagdenberg, A. M. J. M., Pietrobon, D., Pizzorusso, T., Kaja, S., Broos, L. A. M., Cesetti, T., van de Ven, R. C. G., Tottene, A., van der Kaa, J., Plomp, J. J., Frants, R. R., Ferrari, M. D.
|
| Neuron 41: 701-710 2004
|
| 44 | CACNA1A, EA2, SCA6
|
| Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
|
| Mantuano E, Veneziano L, Jodice C, Frontali M.
|
| Cytogenet Genome Res 100(1-4):147-53. 2003
|
| 45 | EA2, CACNA1A
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| Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
|
| Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM.
|
| Ann Neurol 54(6):725-31. 2003
|
| 46 | CACNA1A
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| Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.
|
| Chioza B, Osei-Lah A, Nashef L, Suarez-Merino B, Wilkie H, Sham P, Knight J, Asherson P, Makoff AJ.
|
| Eur J Hum Genet 10(12):857-64. 2002
|
| 47 | EA2, CACNA1A
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| Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.
|
| Sander T, Toliat MR, Heils A, Becker C, Nurnberg P.
|
| Epilepsy Res 49(2):173-7. 2002
|
| 48 | CACNA1A, MHP1
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| Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.
|
| Giffin NJ, Benton S, Goadsby PJ.
|
| Dev Med Child Neurol 44(7):490-3. 2002
|
| 49 | CACNA1A
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| Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1.
|
| Lee A, Westenbroek RE, Haeseleer F, Palczewski K, Scheuer T, Catterall WA.
|
| Nat Neurosci. 5(3):210-7. 2002
|
| 50 | CACNA1A, EA2, MHP1, SCA6
|
| Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
|
| Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D.
|
| Am J Hum Genet 68(3):759-64. 2001
|
| 51 | CACNA1A, SCA6
|
| Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder
|
| Frontali M.
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| Brain Res Bull 56(3-4):227-31. Review. 2001
|
| 52 | CACNA1A, MHP1
|
| Familial hemiplegic migraine: a ion channel disorder
|
| Carrera P, Stenirri S, Ferrari M, Battistini S.
|
| Brain Res Bull 56(3-4):239-41. Review. 2001
|
| 53 | CACNA1A
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| A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.
|
| Trettel F, Mantuano E, Calabresi V, Veneziano L, Olsen AS, Georgescu A, Gordon L, Sabbadini G, Frontali M, Jodice C.
|
| Gene 241(1):45-50. 2000
|
| 54 | CACNA1A, SCA6
|
| Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.
|
| Kato T, Tanaka F, Yamamoto M, Yosida E, Indo T, Watanabe H, Yoshiwara T, Doyu M, Sobue G.
|
| Clin Genet 58(1):69-73. 2000
|
| 55 | CACNA1A, MHP1
|
| Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kinetics.
|
| Kraus RL, Sinnegger MJ, Koschak A, Glossmann H, Stenirri S, Carrera P, Striessnig J.
|
| J Biol Chem 275(13):9239-43. 2000
|
| 56 | CACNA1A, SCA6
|
| Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function.
|
| Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T.
|
| J Biol Chem 275(15):10893-8. 2000
|
| 57 | CACNA1A, EA2, MHP1
|
| Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
|
| Ducros A, et al.
|
| Am J Hum Genet 64 : 89-98. 1999
|
| 58 | MHP1, CACNA1A
|
| Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
|
| Hans M, et al.
|
| J Neurosci 19(5):1610-9. 1999
|
| 59 | CACNA1A, SCA6
|
| Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.
|
| Ishikawa K, et al.
|
| Hum Mol Genet 8(7):1185-1193. 1999
|
| 60 | CACNA1A, EA2
|
| High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
|
| Denier C, et al.
|
| Neurology 52(9):1816-21. 1999
|
| 61 | CACNA1A
|
| A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
|
| Battistini S, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.
|
| Neurology 53(1):38-43 1999
|
| 62 | CACNA1A
|
| Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
|
| Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, Richards RI.
|
| Hum Genet 105(3):261-5. 1999
|
| 63 | CACNA1A
|
| Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit.
|
| Jun, K., Piedras-Renteria, E. S., Smith, S. M., Wheeler, D. B., Lee, S. B., Lee, T. G., Chin, H., Adams, M. E., Scheller, R. H., Tsien, R. W., Shin, H.-S.
|
| Proc. Nat. Acad. Sci. 96: 15245-15250 1999
|
| 64 | CACNA1A, MHP1
|
| Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
|
| Kraus RL, et al.
|
| J Biol Chem 273 : 5586-5590. 1998
|
| 65 | CACNA1A, EA2
|
| De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
|
| Yue Q, et al.
|
| Am J Med Genet 77 : 298-301. 1998
|
| 66 | CACNA1A, CACNA1B, CACNA1E
|
| Locations of human genes for alpha1A, alpha1B, and alpha1E calcium channels determined by radiation hybrid mapping.
|
| Yamazaki K, et al.
|
| J Inherit 89 : 269-271. 1998
|
| 67 | CACNA1A, SCA6
|
| A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.
|
| Takiyama Y, Sakoe K, Namekawa M, Soutome M, Esumi E, Ogawa T, Ishikawa K, Mizusawa H, Nakano I, Nishizawa M.
|
| J Neurol Sci 158 : 141-147. 1998
|
| 68 | CACNA1A, SCA6
|
| Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.
|
| Shizuka M, et al.
|
| J Neurol Sci 161 : 85-87. 1998
|
| 69 | ADRBK1, AR, ZFHX3, CACNA1A, CAPNS1, FOXE1, FOXF1, FMR1, AFF2, HCN1, NRXN1, CA10
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| CCG repeats in cDNAs from human brain.
|
| Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL.
|
| Hum Genet 103(6):666-73. 1998
|
| 70 | CACNA1A, SCA6
|
| Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel.
|
| Zhuchenko O, et al.
|
| Nat Genet 15 : 62-69. 1997
|
| 71 | CACNA1A, SCA6
|
| Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.
|
| Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H.
|
| Am J Hum Genet 61(2):336-46. 1997
|
| 72 | CACNA1A, EA2, SCA6
|
| Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
| Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M.
|
| Hum Mol Genet 6(11):1973-8. 1997
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| 73 | CACNA1A, EA2
|
| Progressive ataxia due to a missense mutation in a calcium-channel gene.
|
| Yue Q, Jen JC, Nelson SF, Baloh RW.
|
| Am J Hum Genet 61(5):1078-87. 1997
|
| 74 | CACNA1A, SYT1
|
| Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel.
|
| Charvin N, L'evęque C, Walker D, Berton F, Raymond C, Kataoka M, Shoji-Kasai Y, Takahashi M, De Waard M, Seagar MJ
|
| EMBO J. 16(15):4591-6. 1997
|
| 75 | CACNA1A, D19S1150, EA2, MHP1
|
| Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
| Ophoff RA, et al.
|
| Cell 87 : 543-552. 1996
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| 76 | CACNA1A
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| Absence epilepsy in tottering mutant mice is associated with calcium channel defects.
|
| Fletcher, C. F., Lutz, C. M., O'Sullivan, T. N., Shaughnessy, J. D, Jr., Hawkes, R., Frankel, W. N., Copeland, N. G., Jenkins, N. A.
|
| Cell. 87: 607-617 1996
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| 77 | CACNA1A, CACNA1B, CACNA1E
|
| Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
|
| Diriong S, et al.
|
| Genomics 30 : 605-609. 1995
|
| 78 | MHP1, CACNA1A
|
| Familial hemiplegic migraine. Localization of a responsible gene on chromosome 19.
|
| Joutel A, Bousser MG, Biousse V, Labauge P, Chabriat H, Nibbio A, Maciazek J, Meyer B, Bach MA, Weissenbach J, et al.
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| Rev Neurol 150 : 340-345. 1994
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| 79 | CACNA1A
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| Structure and functional characterization of neuronal alpha 1E calcium channel subtypes.
|
| Williams ME, et al.
|
| J Biol Chem 269 : 22347-22357. 1994
|