Gene Symbol: Cacna1a
Description: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Alias: APCA, Caca1a, Cacnl1a4, Cav2.1, Ccha1a, EA2, FHM, HPCA, MHP, MHP1, SCA6, alpha1A, nmf352, rkr, smrl, voltage-dependent P/Q-type calcium channel subunit alpha-1A, brain calcium channel I, calcium channel, L type, alpha-1 polypeptide, leaner, rocker, tottering, voltage-gated calcium channel subunit alpha Cav2.1
Species: mouse
Products:     Cacna1a

Top Publications

  1. Isaacs K, Abbott L. Development of the paramedian lobule of the cerebellum in wild-type and tottering mice. Dev Neurosci. 1992;14:386-93 pubmed
    The mutant mouse tottering, (tg/tg), and the compound heterozygote mouse (tg/tg1a) exhibit three neurological disorders: ataxia, petit mal-like absence seizures and myoclonic intermittent movement disorders which are independent of the ..
  2. Tomoda H, Kato M, Sakata S, Shima F. Striatal dysfunction in Rolling mouse Nagoya: an electrophysiological study. J Neurol Sci. 1992;112:106-12 pubmed
    ..These results are in agreement with our previously reported findings of increased glucose metabolism and reduced concentration of GABA in the GP and substantia nigra pars reticula (SNr) in rolling.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  3. Isaacs K, Abbott L. Cerebellar volume decreases in the tottering mouse are specific to the molecular layer. Brain Res Bull. 1995;36:309-14 pubmed
    The volume of the cerebellum as a whole and the volume of the molecular layer per Purkinje cell in adult tottering (tg/tg) and tottering/leaner (tg/tg(la)) mice were reduced when compared with normal age-matched wild type mice (+/+)...
  4. Zwingman T, Neumann P, Noebels J, Herrup K. Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J Neurosci. 2001;21:1169-78 pubmed mouse chromosome 8 within 2 centimorgans of the calcium channel alpha1a subunit (Cacna1a, formerly known as tottering) locus...
  5. Sawada K, Kawano M, Tsuji H, Sakata Haga H, Hisano S, Fukui Y. Over-expression of corticotropin-releasing factor mRNA in inferior olivary neurons of rolling mouse Nagoya. Brain Res Mol Brain Res. 2003;117:190-5 pubmed
    ..These results suggest a region-related over-expression of CRF mRNA in the ION of RMN. This may be responsible for the increased sensitivity of some Purkinje cells to glutamate, resulting in ataxic symptoms of RMN. ..
  6. Onodera H, Takase S, Oda S, Sobue I, Kogure K. Neurotransmitter receptors of the rolling mouse Nagoya: a quantitative autoradiographic study. Neurosci Res. 1988;5:316-24 pubmed
    ..These results suggest that neurochemical alterations in the caudate-putamen as well as in the cerebellar cortex play important roles in the ataxia and motor dysfunction of the RMN. ..
  7. Kaja S, van de Ven R, van Dijk J, Verschuuren J, Arahata K, Frants R, et al. Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya. Eur J Neurosci. 2007;25:2009-20 pubmed
    The ataxic mouse rolling Nagoya (RN) carries a missense mutation in the Cacna1a gene, encoding the pore-forming subunit of neuronal Ca(v)2.1 (P/Q-type) Ca2+ channels...
  8. Fletcher C, Frankel W. Ataxic mouse mutants and molecular mechanisms of absence epilepsy. Hum Mol Genet. 1999;8:1907-12 pubmed
    ..Then, from the new wave of genetic and functional studies of these mutants we discuss their prospects for yielding insight into the molecular mechanisms of epilepsy. ..
  9. Nakamura T, Honda M, Kimura S, Tanabe M, Oda S, Ono H. Taltirelin improves motor ataxia independently of monoamine levels in rolling mouse nagoya, a model of spinocerebellar atrophy. Biol Pharm Bull. 2005;28:2244-7 pubmed

More Information


  1. van den Maagdenberg A, Pietrobon D, Pizzorusso T, Kaja S, Broos L, Cesetti T, et al. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron. 2004;41:701-10 pubmed
    ..migraine type 1 (FHM-1) is a Mendelian subtype of migraine with aura that is caused by missense mutations in the CACNA1A gene that encodes the alpha(1) subunit of neuronal Ca(v)2.1 Ca(2+) channels...
  2. Taniwaki T, Shinoda H, Kaseda Y, Kato M, Goto I. Increased preproenkephalin mRNA and preprotachykinin mRNA in the striatum of Rolling mouse Nagoya. Brain Res. 1996;714:231-4 pubmed
    ..These findings support the hypothesis that the site of primary dysfunction in the basal ganglia is in the striatum of RMN. ..
  3. Sawada K, Komatsu S, Haga H, Sun X, Hisano S, Fukui Y. Abnormal expression of tyrosine hydroxylase immunoreactivity in cerebellar cortex of ataxic mutant mice. Brain Res. 1999;829:107-12 pubmed
    ..Since TH promoter is activated by Ca2+, TH expression in the mutant Purkinje cells may predict neuronal dysfunction caused by alterations in cellular Ca2+ currents. ..
  4. Fletcher C, Tottene A, Lennon V, Wilson S, Dubel S, Paylor R, et al. Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity. FASEB J. 2001;15:1288-90 pubmed
  5. Galliano E, Gao Z, Schonewille M, Todorov B, Simons E, Pop A, et al. Silencing the majority of cerebellar granule cells uncovers their essential role in motor learning and consolidation. Cell Rep. 2013;3:1239-51 pubmed publisher
  6. Kinoshita K, Watanabe Y, Asai H, Yamamura M, Matsuoka Y. Anti-ataxic effects of TRH and its analogue, TA-0910, in Rolling mouse Nagoya by metabolic normalization of the ventral tegmental area. Br J Pharmacol. 1995;116:3274-8 pubmed
    ..4. These results suggest that the ataxia of the rolling mouse may be due to dysfunction of the cerebellum and VTA, and that amelioration by TRH and TA-0910 could result from metabolic normalization of the VTA. ..
  7. Kulik A, Nakadate K, Hagiwara A, Fukazawa Y, Lujan R, Saito H, et al. Immunocytochemical localization of the alpha 1A subunit of the P/Q-type calcium channel in the rat cerebellum. Eur J Neurosci. 2004;19:2169-78 pubmed
    ..We used an antibody specific for the alpha1A subunit of the P/Q-type channel in quantitative pre-embedding immunogold labelling combined with three-..
  8. Hoebeek F, Stahl J, Van Alphen A, Schonewille M, Luo C, Rutteman M, et al. Increased noise level of purkinje cell activities minimizes impact of their modulation during sensorimotor control. Neuron. 2005;45:953-65 pubmed
    ..Here, we show that regularity of neuronal spike activities affects sensorimotor processing in tottering mutants, which suffer from a mutation in P/Q-type voltage-gated calcium channels...
  9. Kaja S, van de Ven R, Broos L, Veldman H, van Dijk J, Verschuuren J, et al. Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness. Neuroscience. 2005;135:81-95 pubmed
    ..Mutations in the encoding gene, CACNA1A, are thus likely to affect neurotransmitter release...
  10. Eikermann Haerter K, Yuzawa I, Qin T, Wang Y, Baek K, Kim Y, et al. Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice. J Neurosci. 2011;31:5755-63 pubmed publisher
    ..migraine type 1, a monogenic migraine variant with aura, is linked to gain-of-function mutations in the CACNA1A gene encoding Ca(V)2.1 channels...
  11. Caddick S, Wang C, Fletcher C, Jenkins N, Copeland N, Hosford D. Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami. J Neurophysiol. 1999;81:2066-74 pubmed
    Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami...
  12. Doyle J, Ren X, Lennon G, Stubbs L. Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mamm Genome. 1997;8:113-20 pubmed
    b>Tottering and leaner, two mutations of the mouse tottering locus, have been studied extensively as models for human epilepsy...
  13. Lorenzon N, Lutz C, Frankel W, Beam K. Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci. 1998;18:4482-9 pubmed
    ..episodic ataxia-2, and spinocerebellar ataxia 6 and also to cause the murine neurological phenotypes of tottering and leaner...
  14. Miyazaki T, Hashimoto K, Shin H, Kano M, Watanabe M. P/Q-type Ca2+ channel alpha1A regulates synaptic competition on developing cerebellar Purkinje cells. J Neurosci. 2004;24:1734-43 pubmed
    ..Here, we demonstrate that the P/Q-type Ca2+ channel alpha1A, a major Ca2+ channel subtype in Purkinje cells, is crucial for this organized synapse formation...
  15. van den Maagdenberg A, Pizzorusso T, Kaja S, Terpolilli N, Shapovalova M, Hoebeek F, et al. High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice. Ann Neurol. 2010;67:85-98 pubmed publisher
    The CACNA1A gene encodes the pore-forming subunit of neuronal Ca(V)2.1 Ca2+ channels...
  16. Inchauspe C, Urbano F, Di Guilmi M, Ferrari M, van den Maagdenberg A, Forsythe I, et al. Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held. J Neurophysiol. 2012;108:2967-76 pubmed publisher
    ..type 1 (FHM-1) is an autosomal-dominant subtype of migraine with aura, caused by missense mutations in the CACNA1A gene that encodes the ?(1A) pore-forming subunit of Ca(V)2.1 channel...
  17. Takahashi E, Niimi K, Itakura C. Motor coordination impairment in aged heterozygous rolling Nagoya, Cav2.1 mutant mice. Brain Res. 2009;1279:50-7 pubmed publisher
    ..These findings suggest that heterozygous mice show age-related motor changes due to mutant-type Cav2.1 and that heterozygous mice may represent a new model for examining motor function. ..
  18. Herrup K, Wilczynski S. Cerebellar cell degeneration in the leaner mutant mouse. Neuroscience. 1982;7:2185-96 pubmed
    ..It is hoped that this developmental sketch of the leaner defect will stimulate others to approach leaner and its alleles, tottering and rolling, as models for heterogeneity of disease expression.
  19. Sawada K, Sakata Haga H, Ando M, Takeda N, Fukui Y. An increased expression of Ca(2+) channel alpha(1A) subunit immunoreactivity in deep cerebellar neurons of rolling mouse Nagoya. Neurosci Lett. 2001;316:87-90 pubmed
    ..Increased expression of the alpha(1A) subunit in deep cerebellar neurons might compensate for the altered function of the P/Q-type Ca(2+) channel of RMN. ..
  20. Mori Y, Wakamori M, Oda S, Fletcher C, Sekiguchi N, Mori E, et al. Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)). J Neurosci. 2000;20:5654-62 pubmed
  21. Campbell D, North J, Hess E. Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background. Exp Neurol. 1999;160:268-78 pubmed
    b>Tottering (tg) mice inherit a recessive mutation of the calcium channel alpha 1A subunit gene, which encodes the pore-forming protein of P/Q-type voltage-sensitive calcium channels and is predominantly expressed in cerebellar granule and ..
  22. Kodama T, Itsukaichi Nishida Y, Fukazawa Y, Wakamori M, Miyata M, Molnar E, et al. A CaV2.1 calcium channel mutation rocker reduces the number of postsynaptic AMPA receptors in parallel fiber-Purkinje cell synapses. Eur J Neurosci. 2006;24:2993-3007 pubmed
    The rocker mice are hereditary ataxic mutants that carry a point mutation in the gene encoding the CaV2.1 (P/Q-type) Ca2+ channel alpha1 subunit, and show the mildest symptoms among the reported CaV2.1 mutant mice...
  23. Jun K, Piedras Rentería E, Smith S, Wheeler D, Lee S, Lee T, et al. Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit. Proc Natl Acad Sci U S A. 1999;96:15245-50 pubmed
    ..The alpha(1A)(-/-) mice provide a starting point for unraveling neuropathological mechanisms of human diseases generated by mutations in alpha(1A). ..
  24. Liu S, Friel D. Impact of the leaner P/Q-type Ca2+ channel mutation on excitatory synaptic transmission in cerebellar Purkinje cells. J Physiol. 2008;586:4501-15 pubmed publisher
    ..described changes in intrinsic properties and excitability of cerebellar Purkinje cells (PCs) resulting from the leaner mutation, which is known to reduce whole-cell Ca(2+) currents in PCs and cause severe ataxia...
  25. Dove L, Abbott L, Griffith W. Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice. J Neurosci. 1998;18:7687-99 pubmed
    ..cloning has revealed that the tgla mutation occurs in a gene encoding the voltage-activated calcium channel alpha1A subunit...
  26. Kaja S, van de Ven R, Broos L, Frants R, Ferrari M, van den Maagdenberg A, et al. Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant mice. Neuroscience. 2007;144:1278-87 pubmed
    The severely ataxic and epileptic mouse leaner (Ln) carries a natural splice site mutation in Cacna1a, leading to a C-terminal truncation of the encoded Ca(v)2.1 alpha(1) protein. Ca(v)2...
  27. Sawada K, Hosoi E, Bando M, Sakata Haga H, Lee N, Jeong Y, et al. Differential alterations in expressions of ryanodine receptor subtypes in cerebellar cortical neurons of an ataxic mutant, rolling mouse Nagoya. Neuroscience. 2008;152:609-17 pubmed publisher
    ..Such expressional changes in ryanodine receptor subtypes may be involved in Ca(2+) channel alpha(1A) subunit gene mutation, and may alter regulation of intracellular Ca(2+) concentrations in cerebellar cortical neurons...
  28. Mark M, Maejima T, Kuckelsberg D, Yoo J, Hyde R, Shah V, et al. Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations. J Neurosci. 2011;31:4311-26 pubmed publisher
    ..and dissect their role in neuronal networks at distinct developmental stages, we created a novel conditional Cacna1a knock-in mouse by inserting the floxed green fluorescent protein derivative Citrine into the first exon of ..
  29. Fioretti B, Catacuzzeno L, Sforna L, Gerke Duncan M, van den Maagdenberg A, Franciolini F, et al. Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraine. J Physiol. 2011;589:5879-95 pubmed publisher
    ..Our findings suggest that the facilitation of peripheral mechanisms of CGRP action, such as dural vasodilatation and nociceptor sensitization at the meninges, does not contribute to the generation of headache in FHM1. ..
  30. Oda S. [The observation of rolling mouse Nagoya (rol), a new neurological mutant, and its maintenance (author's transl)]. Jikken Dobutsu. 1973;22:281-8 pubmed
  31. Pietrobon D. Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine. J Physiol. 2010;588:1871-8 pubmed publisher
  32. Katoh A, Jindal J, Raymond J. Motor deficits in homozygous and heterozygous p/q-type calcium channel mutants. J Neurophysiol. 2007;97:1280-7 pubmed
    ..Several allelic variants of the alpha1A pore-forming subunit of P/Q-type VDCCs have been described, and mice homozygous for these mutations exhibit gait ..
  33. Todorov B, van de Ven R, Kaja S, Broos L, Verbeek S, Plomp J, et al. Conditional inactivation of the Cacna1a gene in transgenic mice. Genesis. 2006;44:589-94 pubmed
    ..Mutations in the CACNA1A gene, encoding the pore forming alpha(1) subunit of Ca(v)2...
  34. Hess E, Wilson M. Tottering and leaner mutations perturb transient developmental expression of tyrosine hydroxylase in embryologically distinct Purkinje cells. Neuron. 1991;6:123-32 pubmed
    The mouse mutants tottering and leaner exhibit neurologic disorders associated, in part, with global noradrenergic hyperinnervation...
  35. Aldea M, Jun K, Shin H, Andres Mateos E, Solís Garrido L, Montiel C, et al. A perforated patch-clamp study of calcium currents and exocytosis in chromaffin cells of wild-type and alpha(1A) knockout mice. J Neurochem. 2002;81:911-21 pubmed
    ..This may be due to altered Ca(2+) homeostasis in these mice, as compared to wild mouse chromaffin cells. ..
  36. Miki T, Zwingman T, Wakamori M, Lutz C, Cook S, Hosford D, et al. Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies. Neuroscience. 2008;155:31-44 pubmed publisher
    ..The mouse homologue, Cacna1a, is associated with the tottering, Cacna1a(tg), mutant series. Here we describe two new missense mutant alleles, Cacna1a(tg-4J) and Cacna1a(Tg-5J)...
  37. Gao Z, Todorov B, Barrett C, van Dorp S, Ferrari M, van den Maagdenberg A, et al. Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice. J Neurosci. 2012;32:15533-46 pubmed publisher
    Mutations in the CACNA1A gene are associated with neurological disorders, such as ataxia, hemiplegic migraine, and epilepsy. These mutations affect the pore-forming ?(1A)-subunit of Ca(V)2...
  38. Qian J, Noebels J. Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations. J Neurosci. 2000;20:163-70 pubmed
    ..presynaptic Ca(2+) currents and neurotransmitter release at hippocampal Schaffer collateral synapses in both tottering (tg, alpha(1A) subunit) and lethargic (lh, beta(4) subunit) mutant mice...
  39. van Oosterhout F, Michel S, Deboer T, Houben T, van de Ven R, Albus H, et al. Enhanced circadian phase resetting in R192Q Cav2.1 calcium channel migraine mice. Ann Neurol. 2008;64:315-24 pubmed publisher
    ..Thus, the physiological inhibitory process appears to be mediated by Ca(v)2.1 channel-dependent afferent signaling from extra-SCN brain areas to the SCN. ..
  40. Austin M, Schultzberg M, Abbott L, Montpied P, Evers J, Paul S, et al. Expression of tyrosine hydroxylase in cerebellar Purkinje neurons of the mutant tottering and leaner mouse. Brain Res Mol Brain Res. 1992;15:227-40 pubmed
    ..tyrosine hydroxylase (TH) mRNA concentrations and immunoreactivity in the locus coeruleus and cerebellum of the tottering (tg/tg), leaner (tgla/tgla), compound heterozygous (tg/tgla) and wild type control (+/+) mice, bred on a C57BL/..
  41. Tottene A, Conti R, Fabbro A, Vecchia D, Shapovalova M, Santello M, et al. Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice. Neuron. 2009;61:762-73 pubmed publisher
    ..The synapse-specific effect of FHM1 mutations points to disruption of excitation-inhibition balance and neuronal hyperactivity as the basis for episodic vulnerability to CSD ignition in migraine. ..
  42. Pietrobon D. CaV2.1 channelopathies. Pflugers Arch. 2010;460:375-93 pubmed publisher
    Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2...
  43. Adams P, Rungta R, Garcia E, van den Maagdenberg A, MacVicar B, Snutch T. Contribution of calcium-dependent facilitation to synaptic plasticity revealed by migraine mutations in the P/Q-type calcium channel. Proc Natl Acad Sci U S A. 2010;107:18694-9 pubmed publisher
    ..and native preparations, gain-of-function missense mutations underlying Familial Hemiplegic Migraine type 1 (FHM-1) occlude CDF of P/Q-type Ca(2+) channels...
  44. Unno T, Wakamori M, Koike M, Uchiyama Y, Ishikawa K, Kubota H, et al. Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6. Proc Natl Acad Sci U S A. 2012;109:17693-8 pubmed publisher
    Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease caused by the expansion of a polyglutamine tract in the Ca(v)2.1 voltage-gated calcium channel...
  45. Franceschini A, Vilotti S, Ferrari M, van den Maagdenberg A, Nistri A, Fabbretti E. TNF? levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine. PLoS ONE. 2013;8:e52394 pubmed publisher a local inflammatory phenotype of a transgenic knock-in (KI) mouse model of familial hemiplegic migraine type-1 (FHM-1)...
  46. Campbell D, Hess E. L-type calcium channels contribute to the tottering mouse dystonic episodes. Mol Pharmacol. 1999;55:23-31 pubmed
    b>Tottering mice inherit a recessive mutation of the calcium channel alpha1A subunit that causes ataxia, polyspike discharges, and intermittent dystonic episodes...
  47. Xie G, Clapcote S, Nieman B, Tallerico T, Huang Y, Vukobradovic I, et al. Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A. Genes Brain Behav. 2007;6:717-27 pubmed
    ..more closely resembles patterns of CACNA1A mutation in humans than previously described mouse recessive mutants (tottering, leaner, rolling Nagoya and rocker)...
  48. Zhou Y, Turner T, Dunlap K. Enhanced G protein-dependent modulation of excitatory synaptic transmission in the cerebellum of the Ca2+ channel-mutant mouse, tottering. J Physiol. 2003;547:497-507 pubmed
    b>Tottering, a mouse model for absence epilepsy and cerebellar ataxia, carries a mutation in the gene encoding class A (P/Q-type) Ca2+ channels, the dominant exocytotic Ca2+ channel at most synapses in the mammalian central nervous system...
  49. Muramoto O, Kanazawa I, Ando K. Neurotransmitter abnormality in Rolling mouse Nagoya, an ataxic mutant mouse. Brain Res. 1981;215:295-304 pubmed
  50. Tamaki Y, Oda S, Kameyama Y. Postnatal locomotion development in a neurological mutant of rolling mouse Nagoya. Dev Psychobiol. 1986;19:67-77 pubmed
    ..These findings might result from an immature development of hindlimb muscle tonus control system and distortion of smooth and orderly sequence of hindlimb muscular contractions which characterize skillful quadrupedal locomotion. ..
  51. Nair A, Simonetti M, Birsa N, Ferrari M, van den Maagdenberg A, Giniatullin R, et al. Familial hemiplegic migraine Ca(v)2.1 channel mutation R192Q enhances ATP-gated P2X3 receptor activity of mouse sensory ganglion neurons mediating trigeminal pain. Mol Pain. 2010;6:48 pubmed publisher
    The R192Q mutation of the CACNA1A gene, encoding for the ?1 subunit of voltage-gated P/Q Ca2+ channels (Ca(v)2.1), is associated with familial hemiplegic migraine-1...
  52. Fletcher C, Lutz C, O Sullivan T, Shaughnessy J, Hawkes R, Frankel W, et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell. 1996;87:607-17 pubmed
    Mutations at the mouse tottering (tg) locus cause a delayed-onset, recessive neurological disorder resulting in ataxia, motor seizures, and behavioral absence seizures resembling petit mal epilepsy in humans...
  53. Wakamori M, Yamazaki K, Matsunodaira H, Teramoto T, Tanaka I, Niidome T, et al. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem. 1998;273:34857-67 pubmed
    ..Homozygous ataxic mice, tottering (tg) and leaner (tgla) mice, have mutations in the P/Q-type Ca2+ channel alpha1A subunit gene...
  54. Matsushita K, Wakamori M, Rhyu I, Arii T, Oda S, Mori Y, et al. Bidirectional alterations in cerebellar synaptic transmission of tottering and rolling Ca2+ channel mutant mice. J Neurosci. 2002;22:4388-98 pubmed
    Hereditary ataxic mice, tottering (tg) and rolling Nagoya (tg(rol)), carry mutations in the P/Q-type Ca(2+) channel alpha(1A) subunit gene...
  55. Green M, Sidman R. Tottering--a neuromusclar mutation in the mouse. And its linkage with oligosyndacylism. J Hered. 1962;53:233-7 pubmed
  56. Ando M, Sawada K, Sakata Haga H, Jeong Y, Takeda N, Fukui Y. Regional difference in corticotropin-releasing factor immunoreactivity in mossy fiber terminals innervating calretinin-immunoreactive unipolar brush cells in vestibulocerebellum of rolling mouse Nagoya. Brain Res. 2005;1063:96-101 pubmed
    ..CRF may alter CR-positive UBC-mediated excitatory pathways in the lobule X of RMN and may disturb functions of the lobule X such as cerebellar adaptation for linear motion of the head...
  57. Eikermann Haerter K, Dilekoz E, Kudo C, Savitz S, Waeber C, Baum M, et al. Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. J Clin Invest. 2009;119:99-109 pubmed publisher
    ..As with other types of migraine, it affects women more frequently than men. FHM1 is caused by mutations in the CACNA1A gene, which encodes the alpha1A subunit of Cav2...
  58. Stahl J. Eye movements of the murine P/Q calcium channel mutant rocker, and the impact of aging. J Neurophysiol. 2004;91:2066-78 pubmed
    Mutations in the gene encoding the ion pore of the P/Q voltage-activated calcium channel (CACNA1A) are predicted to alter synaptic transmission and dendritic excitability within cerebellar granule and Purkinje cells...
  59. Walter J, Alviña K, Womack M, Chevez C, Khodakhah K. Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci. 2006;9:389-97 pubmed
    Episodic ataxia type-2 (EA2) is caused by mutations in P/Q-type voltage-gated calcium channels that are expressed at high densities in cerebellar Purkinje cells...
  60. Suh Y, Oda S, Kang Y, Kim H, Rhyu I. Apoptotic cell death of cerebellar granule cells in rolling mouse Nagoya. Neurosci Lett. 2002;325:1-4 pubmed
    Rolling mouse Nagoya is a voltage dependent calcium channel alpha1A subunit mutant showing moderate ataxia. Granule cell loss was previously reported in the cerebellar vermis of homozygous rolling...
  61. Plomp J, Vergouwe M, van den Maagdenberg A, Ferrari M, Frants R, Molenaar P. Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation. Brain. 2000;123 Pt 3:463-71 pubmed
    ..b>Tottering (tg) alpha(1A) mutant mice display ataxia and epilepsy...
  62. Watase K, Barrett C, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, et al. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008;105:11987-92 pubmed publisher
    ..generated three strains of knockin (KI) mice carrying normal, expanded, or hyperexpanded CAG repeat tracts in the Cacna1a locus...