Citations for
1CACNA1A, MHP1
Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions
Duque KR, Marsili L, Sturchio A, Mahajan A, Merola A, Espay AJ, Kauffman MA.
Cerebellum Feb;20(1):134-139. doi: 10.1007/s12311-020-01185-9. Epub 2020 Sep 5. 2021
2CACNA1A, EA2
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
Penkava J, Ledderose S, Chahrokh-Zadeh S, Munzig A, Eulenburg Z, Huppert D, Strupp M, Becker-Bense S.
J Neurol. Dec;267(Suppl 1):181-184. doi: 10.1007/s00415-020-10190-1. Epub 2020 Sep 10. 2020
3BPTI, CACNA1A
A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia
Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y.
J Neurol Sci. Apr 15;399:214-216. doi: 10.1016/j.jns.2019.02.040. Epub 2019 Mar 1. 2019
4CACNA1A, MHP1
Ultrastructural changes in microvessels in familial hemiplegic migraine with CACNA1A mutation
Dziewulska D, Kierdaszuk B.
Clin Neuropathol. Nov/Dec;37(6):283-287. doi: 10.5414/NP300619. 2018
5CACNA1A, EA2
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
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.
Eur J Paediatr Neurol. May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. 2017
6CACNA1A, EIEE41, EIEE42, EIEE43, GABRB3, SLC1A2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Epi4K Consortium.
Am J Hum Genet 99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28. 2016
7CACNA1A, EIEE42
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
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.
Am J Med Genet A. Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2 2016
8CACNA1A, CACNA1B, GHSR
Constitutive and ghrelin-dependent GHSR1a activation impairs CaV2.1 and CaV2.2 currents in hypothalamic neurons.
López Soto EJ, Agosti F, Cabral A, Mustafa ER, Damonte VM, Gandini MA, Rodríguez S, Castrogiovanni D, Felix R, Perelló M, Raingo J.
J Gen Physiol 146(3):205-19. doi: 10.1085/jgp.201511383. 2015
9CACNA1A, EIEE42
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Damaj L, Lupien-Meilleur A, Lortie A, Riou É, Ospina LH, Gagnon L, Vanasse C, Rossignol E.
Eur J Hum Genet. Nov;23(11):1505-12. doi: 10.1038/ejhg.2015.21. Epub 2015 Mar 4. 2015
10BSN, CACNA1A
Bassoon specifically controls presynaptic P/Q-type Ca(2+) channels via RIM-binding protein.
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.
Neuron 82(1):181-94. doi: 10.1016/j.neuron.2014.02.012. 2014
11CACNA1A, CACNA1B, CACNA1E
Distinct roles for Cav2.1-2.3 in activity-dependent synaptic dynamics.
Ricoy UM, Frerking ME.
J Neurophysiol 111(12):2404-13. doi: 10.1152/jn.00335.2013. Epub 2014 Feb 12. 2014
12CACNA1A, EIEE42
De novo mutations in epileptic encephalopathies.
Epi4K Consortium.
Nature 501(7466):217-21. doi: 10.1038/nature12439. 2013
13CACNA1A
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6
Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM.
Cell. Jul 3;154(1):118-33. doi: 10.1016/j.cell.2013.05.059. 2013
14CACNA1A, SCA6
Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6.
Unno T, Wakamori M, Koike M, Uchiyama Y, Ishikawa K, Kubota H, Yoshida T, Sasakawa H, Peters C, Mizusawa H, Watase K.
Proc Natl Acad Sci U S A 109(43):17693-8. doi: 10.1073/pnas.1212786109. Epub 2012 Oct 10. 2012
15CACNA1A, HPCAL4
Molecular determinants of modulation of CaV2.1 channels by visinin-like protein 2.
Nanou E, Martinez GQ, Scheuer T, Catterall WA.
J Biol Chem 287(1):504-13. doi: 10.1074/jbc.M111.292581. Epub 2011 Nov 10. 2012
16CACNA1A, CALB2
Calretinin regulates Ca2+-dependent inactivation and facilitation of Ca(v)2.1 Ca2+ channels through a direct interaction with the α12.1 subunit.
Christel CJ, Schaer R, Wang S, Henzi T, Kreiner L, Grabs D, Schwaller B, Lee A.
J Biol Chem 287(47):39766-75. doi: 10.1074/jbc.M112.406363. Epub 2012 Oct 2. 2012
17BSN, CACNA1A, CACNA1B
Active zone protein Bassoon co-localizes with presynaptic calcium channel, modifies channel function, and recovers from aging related loss by exercise.
Nishimune H, Numata T, Chen J, Aoki Y, Wang Y, Starr MP, Mori Y, Stanford JA.
PLoS One 7(6):e38029. doi: 10.1371/journal.pone.0038029. Epub 2012 Jun 6. 2012
18ATXN7, CACNA1A, CRIM1
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabási AL, Zoghbi HY.
Hum Mol Genet. 20(3):510-27. 2011
19CACNA1A
High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
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.
Ann. Neurol. 67: 85-98 2010
20CACNA1A, CACNA1B, NOVA2
The neuronal splicing factor Nova controls alternative splicing in N-type and P-type CaV2 calcium channels.
Allen SE, Darnell RB, Lipscombe D.
Channels (Austin) 4(6):483-9. Epub 2010 Nov 1. Review. 2010
21CACNA1A, EA1, EA2, EA3, EA4, EA5, EA6, EAAT1, KCNA1, SCA6
Late onset hereditary episodic ataxia.
Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.
J Neurol Neurosurg Psychiatry 80(5):566-8. 2009
22CACNA1A
Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
Self J, Mercer C, Boon EM, Murugavel M, Shawkat F, Hammans S, Hodgkins P, Griffiths H, Lotery A.
Eye (Lond). 23(12):2251-5. 2009
23CACNA1A
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.
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.
J. Clin. Invest. 119: 99-109 2009
24CACNA1A, SCA6
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
Craig K, Takiyama Y, Soong BW, Jardim LB, Saraiva-Pereira ML, Lythgow K, Morino H, Maruyama H, Kawakami H, Chinnery PF.
Eur J Hum Genet 16(7):841-7. Epub 2008 Feb 20. 2008
25CACNA1A, MHP1
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
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.
Clin Genet 74(5):481-5. Epub 2008 Apr 8. 2008
26CACNA1A
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant Ca(v)2.1 channels.
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.
Proc. Nat. Acad. Sci. 105: 11987-11992 2008
27CACNA1A
Enhanced circadian phase resetting in R192Q Cav2.1 calcium channel migraine mice.
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.
Ann. Neurol. 64: 315-324 2008
28CACNA1A, EA2
Axonal function in a family with episodic ataxia type 2 due to a novel mutation.
Krishnan AV, Bostock H, Ip J, Hayes M, Watson S, Kiernan MC.
J Neurol 255(5):750-5. Epub 2008 Mar 14.PMID: 18338196 2008
29CACNA1A, SCA6
Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.
Saegusa H, Wakamori M, Matsuda Y, Wang J, Mori Y, Zong S, Tanabe T.
Mol Cell Neurosci 34(2):261-70. Epub 2006 Dec 22. 2007
30CACNA1A, EA1, EA2, KCNA1
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators.
Brain 130(Pt 10):2484-93. Epub 2007 Jun 15. Review. 2007
31CACNA1A
Gamma-band deficiency and abnormal thalamocortical activity in P/Q-type channel mutant mice.
Llinás RR, Choi S, Urbano FJ, Shin HS.
Proc Natl Acad Sci U S A. 104(45):17819-24. 2007
32CACNA1A, CACNA1B
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.
J Neurosci 27(19):5236-48. 2007
33SCA1, 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.
Trends Genet 22(10):562-70. Epub 2006 Sep 5. 2006
34EA2, CACNA1A
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
Spacey SD, Materek LA, Szczygielski BI, Bird TD.
Arch Neurol 62(2):314-6. 2005
35MHP1, CACNA1A
Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission.
Cao YQ, Tsien RW.
Proc Natl Acad Sci U S A 102(7):2590-5. Epub 2005 Feb 7. 2005
36FXN, 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
Diseases of unstable repeat expansion: mechanisms and common principles.
Gatchel JR, Zoghbi HY.
Nat Rev Genet 6(10):743-55. Review. 2005
37CACNA1A, EA2
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
38CACNA1A,EA2
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.
Neurology 65(6):944-6. 2005
39ATXN2,CACNA1A,SCA2
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.
Brain 128(Pt 10):2297-303. Epub 2005 Jul 6. 2005
40CACNA1A, 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
41CACNA1A, 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
42CACNA1A, 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.
J Biol Chem 279(50):51844-50. Epub 2004 Sep 23. 2004
43CACNA1A
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
44CACNA1A, 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
45EA2, CACNA1A
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
46CACNA1A
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
47EA2, CACNA1A
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
48CACNA1A, MHP1
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
49CACNA1A
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
50CACNA1A, 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
51CACNA1A, SCA6
Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder
Frontali M.
Brain Res Bull 56(3-4):227-31. Review. 2001
52CACNA1A, 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
53CACNA1A
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
54CACNA1A, 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
55CACNA1A, 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
56CACNA1A, 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
57CACNA1A, 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
58MHP1, 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
59CACNA1A, 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
60CACNA1A, 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
61CACNA1A
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
62CACNA1A
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
63CACNA1A
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
64CACNA1A, MHP1
Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
Kraus RL, et al.
J Biol Chem 273 : 5586-5590. 1998
65CACNA1A, EA2
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
Yue Q, et al.
Am J Med Genet 77 : 298-301. 1998
66CACNA1A, 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
67CACNA1A, 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
68CACNA1A, 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
69ADRBK1, AR, ZFHX3, CACNA1A, CAPNS1, FOXE1, FOXF1, FMR1, AFF2, HCN1, NRXN1, CA10
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
70CACNA1A, 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
71CACNA1A, 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
72CACNA1A, 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
73CACNA1A, 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
74CACNA1A, 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
75CACNA1A, 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
76CACNA1A
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
77CACNA1A, 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
78MHP1, 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.
Rev Neurol 150 : 340-345. 1994
79CACNA1A
Structure and functional characterization of neuronal alpha 1E calcium channel subtypes.
Williams ME, et al.
J Biol Chem 269 : 22347-22357. 1994