CACNA1A

Summary

Gene Symbol: CACNA1A
Description: calcium voltage-gated channel subunit alpha1 A
Alias: APCA, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6, voltage-dependent P/Q-type calcium channel subunit alpha-1A, brain calcium channel 1, brain calcium channel I, calcium channel, L type, alpha-1 polypeptide, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit, voltage-gated calcium channel subunit alpha Cav2.1
Species: human
Products:     CACNA1A

Top Publications

  1. Soong T, DeMaria C, Alvania R, Zweifel L, Liang M, Mittman S, et al. Systematic identification of splice variants in human P/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation. J Neurosci. 2002;22:10142-52 pubmed
    ..These findings significantly expand the anticipated scope of functional diversity produced by splice variation of P/Q-type channels. ..
  2. Tottene A, Pivotto F, Fellin T, Cesetti T, van den Maagdenberg A, Pietrobon D. 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 pubmed
    ..Ca(2+) channels produces a severe clinical phenotype in which typical attacks of familial hemiplegic migraine (FHM) triggered by minor head trauma are followed, after a lucid interval, by deep (even fatal) coma and long lasting ..
  3. Adams P, Garcia E, David L, Mulatz K, Spacey S, Snutch T. Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies. Channels (Austin). 2009;3:110-21 pubmed
    ..the present study, we systematically compare the biophysical effects of three type-1 familial hemiplegic migraine (FHM-1) mutations in two predominant splice variants of the neuronal Ca(V)2.1 P/Q-type channel...
  4. Mullner C, Broos L, van den Maagdenberg A, Striessnig J. Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects. J Biol Chem. 2004;279:51844-50 pubmed
    ..As the beta-subunit composition of Cav2.1 channels varies in different brain regions, our data predict that the functional FHM1 phenotype also varies between different neurons or even within different neuronal compartments. ..
  5. Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, et al. 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. Am J Hum Genet. 1997;61:336-46 pubmed
    ..Analysis of CAG-repeat expansion in the alpha1A-voltage-dependent calcium channel (CACNL1A4) gene lying in 19p13...
  6. Kubodera T, Yokota T, Ohwada K, Ishikawa K, Miura H, Matsuoka T, et al. Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6. Neurosci Lett. 2003;341:74-8 pubmed
    Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease caused by small CAG repeat expansion in the alpha1A calcium channel gene...
  7. Luvisetto S, Fellin T, Spagnolo M, Hivert B, Brust P, Harpold M, et al. Modal gating of human CaV2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunits. J Gen Physiol. 2004;124:445-61 pubmed
  8. Wan J, Mamsa H, Johnston J, Spriggs E, Singer H, Zee D, et al. Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. Front Neurol. 2011;2:51 pubmed publisher
    ..subtype, is caused by mostly nonsense, splice site, small indel, and sometimes missense mutations in CACNA1A. Direct sequencing of CACNA1A fails to identify mutations in some patients with EA2-like features, possibly due ..
  9. Altier C, Garcia Caballero A, Simms B, You H, Chen L, Walcher J, et al. The Cav? subunit prevents RFP2-mediated ubiquitination and proteasomal degradation of L-type channels. Nat Neurosci. 2011;14:173-80 pubmed publisher
    ..Thus, Cav?? regulates the ubiquitination and stability of the calcium channel complex. ..

More Information

Publications90

  1. Chaudhuri D, Chang S, DeMaria C, Alvania R, Soong T, Yue D. Alternative splicing as a molecular switch for Ca2+/calmodulin-dependent facilitation of P/Q-type Ca2+ channels. J Neurosci. 2004;24:6334-42 pubmed
    ..The physiological function of these variants is likely important, because we find that the distribution of EF-hand splice variants is strikingly heterogeneous in the human brain, varying both across regions and during development. ..
  2. Romaniello R, Zucca C, Tonelli A, Bonato S, Baschirotto C, Zanotta N, et al. A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. J Neurol Neurosurg Psychiatry. 2010;81:840-3 pubmed publisher
    Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (..
  3. Riant F, Lescoat C, Vahedi K, Kaphan E, Toutain A, Soisson T, et al. Identification of CACNA1A large deletions in four patients with episodic ataxia. Neurogenetics. 2010;11:101-6 pubmed publisher
    ..Episodic ataxia type 2 (EA2) is caused by mutations in CACNA1A. EA2 mutations are mostly nonsense and sometimes missense mutations...
  4. Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, et al. The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. Acta Neuropathol. 2010;119:447-64 pubmed publisher
    Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease caused by a small polyglutamine (polyQ) expansion (control: 4-20Q; SCA6: 20-33Q) in the carboxyl(C)-terminal cytoplasmic domain of the alpha(1A) ..
  5. Perez Reyes E, Castellano A, Kim H, Bertrand P, Baggstrom E, Lacerda A, et al. Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel. J Biol Chem. 1992;267:1792-7 pubmed
    ..These results indicate that the cardiac L-type Ca2+ channel has a similar subunit structure as in skeletal muscle, and provides evidence for the modulatory role of the beta subunit. ..
  6. Fellin T, Luvisetto S, Spagnolo M, Pietrobon D. Modal gating of human CaV2.1 (P/Q-type) calcium channels: II. the b mode and reversible uncoupling of inactivation. J Gen Physiol. 2004;124:463-74 pubmed
    ..1 channels could be a potent and versatile mechanism for the modulation of synaptic strength and plasticity as well as of neuronal excitability and other postsynaptic Ca2+-dependent processes. ..
  7. 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...
  8. Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, et al. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. J Neurol Sci. 2010;291:30-6 pubmed publisher
    ..The disease was caused by mutations in the CACNA1A gene, on chromosome 19p. We perform a mutational screening in a group of 43 unrelated patients...
  9. Inchauspe C, Urbano F, Di Guilmi M, Forsythe I, Ferrari M, van den Maagdenberg A, et al. Gain of function in FHM-1 Cav2.1 knock-in mice is related to the shape of the action potential. J Neurophysiol. 2010;104:291-9 pubmed publisher
    Familial hemiplegic migraine type-1 FHM-1 is caused by missense mutations in the CACNA1A gene that encodes the alpha(1A) pore-forming subunit of Ca(V)2.1 Ca(2+) channels...
  10. Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch T, et al. A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation. J Biol Chem. 1999;274:12383-90 pubmed
    ..Our data contribute to our understanding of the molecular organization of calcium channels, providing a functional basis for variation in subunit composition of native P/Q-type channels. ..
  11. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997;6:1973-8 pubmed
    Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2)...
  12. Takahashi H, Ishikawa K, Tsutsumi T, Fujigasaki H, Kawata A, Okiyama R, et al. A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6. J Hum Genet. 2004;49:256-64 pubmed
    In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140 patients...
  13. Few A, Nanou E, Scheuer T, Catterall W. Molecular determinants of CaV2.1 channel regulation by calcium-binding protein-1. J Biol Chem. 2011;286:41917-23 pubmed publisher
    ..1 channels by CaBP1. These findings give insight into the molecular code by which CaS proteins differentially regulate Ca(V)2.1 channel function and provide diversity of form and function of short term synaptic plasticity. ..
  14. Riant F, Mourtada R, Saugier Veber P, Tournier Lasserve E. Large CACNA1A deletion in a family with episodic ataxia type 2. Arch Neurol. 2008;65:817-20 pubmed publisher
    ..2 (EA2) is characterized by prolonged episodes of ataxia with interictal nystagmus and is caused by mutations in CACNA1A. All mutations identified thus far (to our knowledge) are nonsense or missense point mutations...
  15. Eunson L, Graves T, Hanna M. New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. Neurology. 2005;65:308-10 pubmed
    ..EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported ..
  16. Matsuyama Z, Murase M, Shimizu H, Aoki Y, Hayashi M, Hozumi I, et al. A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family. J Neurol Sci. 2003;210:91-3 pubmed
    ..These episodes usually lasted for several hours two or three times a week. Direct sequence of CACNA1A demonstrated a novel insertion mutation in the patient and her father...
  17. Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, et al. Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J Biol Chem. 2000;275:10893-8 pubmed
    ..On the other hand, other types of neurons, expressing both alpha1A(-NP) and alpha1A(+NP), may survive because the positive shift of voltage-dependent inactivation of alpha1A(+NP) compensates Ca(2+) influx. ..
  18. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton D, Amos C, 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 pubmed
    ..We conclude that a small polyglutamine expansion in the human alpha 1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
  19. Imbrici P, Eunson L, Graves T, Bhatia K, Wadia N, Kullmann D, et al. Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology. 2005;65:944-6 pubmed
    Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear...
  20. Labrum R, Rajakulendran S, Graves T, Eunson L, Bevan R, Sweeney M, et al. Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. J Med Genet. 2009;46:786-91 pubmed publisher
    ..Point mutations in CACNA1A, which encodes the neuronal P/Q-type calcium channel, have been detected in many cases of EA2 and FHM1...
  21. Kordasiewicz H, Thompson R, Clark H, Gomez C. C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet. 2006;15:1587-99 pubmed
    ..The C-terminal fragment bears a polyglutamine tract which, when expanded (Q33) as in spinocerebellar ataxia type 6 (SCA6), is toxic to cells. Moreover, polyglutamine-mediated toxicity is dependent on nuclear localization...
  22. Ophoff R, Terwindt G, Vergouwe M, van Eijk R, Oefner P, Hoffman S, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87:543-52 pubmed
    ..We characterized a brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons...
  23. Jeng C, Chen Y, Chen Y, Tang C. Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. Am J Physiol Cell Physiol. 2006;290:C1209-20 pubmed
    Episodic ataxia type 2 (EA2) is an inherited autosomal dominant disorder related to cerebellar dysfunction and is associated with mutations in the pore-forming alpha(1A)-subunits of human P/Q-type Ca(2+) channels (Cav2.1 channels)...
  24. Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C, et al. Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci U S A. 2002;99:13284-9 pubmed
    ..1 channels containing mutations linked to familial hemiplegic migraine (FHM). Here, we extend the previous single-channel analysis to human Ca(V)2.1 channels containing mutation V1457L...
  25. Walker D, Bichet D, Campbell K, De Waard M. A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit. J Biol Chem. 1998;273:2361-7 pubmed
    ..This is the first demonstration of a molecular basis for the specificity of functional effects seen for different combinations of these two channel components. ..
  26. Trettel F, Mantuano E, Calabresi V, Veneziano L, Olsen A, Georgescu A, et al. A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome. Gene. 2000;241:45-50 pubmed
    The P/Q-type Ca(2+) channel alpha(1A) subunit gene (CACNA1A) was cloned on the short arm of chromosome 19 between the markers D19S221 and D19S179 and found to be responsible for Episodic Ataxia type 2, Familial Hemiplegic Migraine and ..
  27. Rentiya Z, Khan N, Ergun E, Ying S, Desmond J. Distinct cerebellar regions related to motor and cognitive performance in SCA6 patients. Neuropsychologia. 2017;107:25-30 pubmed publisher
    To demonstrate a correlation between anatomic regional changes in Spinocerebellar Ataxia type 6 (SCA6) patients and measures of cognitive performance on neuropsychological tests...
  28. Thomsen L, Oestergaard E, Bjornsson A, Stefansson H, Fasquel A, Gulcher J, et al. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. Cephalalgia. 2008;28:914-21 pubmed publisher
    The aim of this study was to investigate the involvement of the CACNA1A and ATP1A2 gene in a population-based sample of sporadic hemiplegic migraine (SHM)...
  29. Zamponi G, Lory P, Perez Reyes E. Role of voltage-gated calcium channels in epilepsy. Pflugers Arch. 2010;460:395-403 pubmed publisher
    ..1 alpha1 subunit (CACNA1A) have been linked to absence seizures in both humans and rodents...
  30. Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier Lasserve E. De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. Neurology. 2010;75:967-72 pubmed publisher
    ..7 ± 8.2 years and mean age at clinical onset was 7.7 ± 3.4 years. Sequencing of ATP1A2 and CACNA1A was conducted in each proband and all identified variants were looked for in both parents...
  31. Bose H, Satyanarayana T. Utility of thermo-alkali-stable ?-CA from polyextremophilic bacterium Aeribacillus pallidus TSHB1 in biomimetic sequestration of CO2 and as a virtual peroxidase. Environ Sci Pollut Res Int. 2017;24:10869-10884 pubmed publisher
    Aeribacillus pallidus TSHB1 polyextremophilic bacterium produces a ?-carbonic anhydrase (ApCA), which is a homotrimeric biocatalyst with a subunit molecular mass of 32 ± 2 kDa. The enzyme is stable in the pH range between 8.0 and 11...
  32. Kors E, Melberg A, Vanmolkot K, Kumlien E, Haan J, Raininko R, et al. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology. 2004;63:1136-7 pubmed
  33. Tamura I, Takei A, Hamada S, Nonaka M, Kurosaki Y, Moriwaka F. Cognitive dysfunction in patients with spinocerebellar ataxia type 6. J Neurol. 2017;264:260-267 pubmed publisher
    The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 6 (SCA6)...
  34. Nakatani Y, Hotta S, Utsunomiya I, Tanaka K, Hoshi K, Ariga T, et al. Cav2.1 voltage-dependent Ca2+ channel current is inhibited by serum from select patients with Guillain-Barré syndrome. Neurochem Res. 2009;34:149-57 pubmed publisher
    ..1 VDCC current. These results suggest that in some case of GBS, particularly of AMAN patients with IgG anti-GM1 mAb, muscle weakness may be induced by dysfunction of Cav2.1 VDCC functioning at the motor nerve terminals. ..
  35. Yang H, Jung M, Avunje S, Nikapitiya C, Kang S, Ryu Y, et al. Efficacy of algal Ecklonia cava extract against viral hemorrhagic septicemia virus (VHSV). Fish Shellfish Immunol. 2018;72:273-281 pubmed publisher
    ..to determine whether the extract and compounds exhibited inhibitory activity against VHSV in the fathead minnow (FHM) cell line and following oral administration to the olive flounder...
  36. Spacey S, Materek L, Szczygielski B, Bird T. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol. 2005;62:314-6 pubmed
    Episodic ataxia type 2 (EA2) is an autosomal dominant condition that results from mutations in the CACNA1A gene. It is characterized by episodes of ataxia and nystagmus that typically last hours...
  37. Liao C, Chen L, Luethy A, Kim Y, Kani K, MacLeod A, et al. Androgen receptor in cancer-associated fibroblasts influences stemness in cancer cells. Endocr Relat Cancer. 2017;24:157-170 pubmed publisher
    ..from the murine cPten-/-L prostate cancer model and cultured with human prostate cancer epithelial (hPCa) cells...
  38. Chen X, Zhang S, Xuan Z, Ge D, Chen X, Zhang J, et al. The Phenolic Fraction of Mentha haplocalyx and Its Constituent Linarin Ameliorate Inflammatory Response through Inactivation of NF-κB and MAPKs in Lipopolysaccharide-Induced RAW264.7 Cells. Molecules. 2017;22: pubmed publisher
    ..haplocalyx (MHP) and its constituent linarin in lipopolysaccharide (LPS)-induced RAW264.7 cells...
  39. Azorin J, Belzeaux R, Fakra E, Hantouche E, Adida M. Characteristics of depressive patients according to family history of affective illness: Findings from a French national cohort. J Affect Disord. 2016;198:15-22 pubmed publisher
    ..The aim of the current study was to compare the prominent features of depressive patients with a FH of mania (FHM), those of depressive patients with a FH of depression (FHD), and those of depressive patients with no FH of ..
  40. Erivan R, Aubret S, Villatte G, Mulliez A, Descamps S, Boisgard S. Does using a polyethylene RM press-fit cup modify the preparation of the acetabulum and acetabular offset in primary hip arthroplasty?. Orthop Traumatol Surg Res. 2017;103:669-674 pubmed publisher
    ..0% of cases and a standard stem in 8.0%. Measurements were done on plain radiographs with MHP™ and Mesurim Pro™ software. The average follow-up was 6.5 years (5-8)...
  41. Bawa B, Abbott L. Alterations in intracellular calcium ion concentrations in cerebellar granule cells of the CACNA1A mutant mouse, leaner, during postnatal development. Neurotox Res. 2011;19:123-7 pubmed publisher
    ..This suggests that other VGCC are compensating for the dysfunctional P/Q channels. This finding was further confirmed by completely blocking Ca(V)2.1 VGCC using ?-Agatoxin IV-A. ..
  42. Xie T, Appelbaum D, Bernard J, Padmanaban M, Pu Y, Gomez C. Evaluation of parkinsonism and striatal dopamine transporter loss in patients with spinocerebellar ataxia type 6. J Neurol. 2016;263:2302-2307 pubmed
    It is unclear whether patients with spinocerebellar ataxia type 6 (SCA6) have parkinsonism and striatal dopamine transporter (DAT) loss, based on previously small size studies without well-matched controls...
  43. Guo M, Wei J, Zhou Y, Qin Q. Molecular clone and characterization of c-Jun N-terminal kinases 2 from orange-spotted grouper, Epinephelus coioides. Fish Shellfish Immunol. 2016;49:355-63 pubmed publisher
    ..01) up-regulated in juvenile orange-spotted grouper. Over-expressing Ec-JNK2 in fathead minnow (FHM) cells increased the SGIV infection and replication, while over-expressing the dominant-negative Ec-JNK2Δ181-..
  44. Spacey S, Hildebrand M, Materek L, Bird T, Snutch T. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol. 2004;56:213-20 pubmed
    ..EA2 typically results from nonsense mutations in the CACNA1A gene that encodes the alpha1A (Cav2.1) subunit of the P/Q-type calcium (Ca2+) channel...
  45. Cleves C, Parikh S, Rothner A, Tepper S. Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. Cephalalgia. 2010;30:740-3 pubmed publisher
    ..migraine (HM) and episodic ataxia type 2 (EA2) has been described; both disorders are linked to mutations in the CACNA1A gene...
  46. Aung T, Ozaki M, Lee M, Schlötzer Schrehardt U, Thorleifsson G, Mizoguchi T, et al. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49:993-1004 pubmed publisher
    ..Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS...
  47. Friend K, Crimmins D, Phan T, Sue C, Colley A, Fung V, et al. Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. Hum Genet. 1999;105:261-5 pubmed
    Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz...
  48. Gardiner S, van Belzen M, Boogaard M, van Roon Mom W, Rozing M, van Hemert A, et al. Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression. Transl Psychiatry. 2017;7:e1143 pubmed publisher
    ..We determined the CAG repeat sizes of ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and AR in two well-characterized Dutch cohorts-the Netherlands Study of Depression and Anxiety ..
  49. Davydova D, Marini C, King C, Klueva J, Bischof F, Romorini S, et al. Bassoon specifically controls presynaptic P/Q-type Ca(2+) channels via RIM-binding protein. Neuron. 2014;82:181-94 pubmed publisher
    ..2. These data establish Bassoon as a major regulator of the molecular composition of the presynaptic neurotransmitter release sites. ..
  50. Gandini M, Sandoval A, Zamponi G, Felix R. The MAP1B-LC1/UBE2L3 complex catalyzes degradation of cell surface CaV2.2 channels. Channels (Austin). 2014;8:452-7 pubmed publisher
    ..In addition, here we propose that this novel mechanism of CaV channel regulation might be conserved among N-type and P/Q-type channels. ..
  51. Mantuano E, Veneziano L. Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. J Neurol Sci. 2007;263:226; author reply 226-7 pubmed
  52. Choi K, Jen J, Choi S, Shin J, Kim H, Kim H, et al. Late-onset episodic ataxia associated with SLC1A3 mutation. J Hum Genet. 2017;62:443-446 pubmed publisher
    ..We identified a missense mutation in SLC1A3 in a family with EA. The proband exhibited typical EA2-like symptoms such as recurrent ataxia, slurred speech with a duration of several hours, interictal nystagmus and ..
  53. Mark M, Krause M, Boele H, Kruse W, Pollok S, Kuner T, et al. Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity. J Neurosci. 2015;35:8882-95 pubmed publisher
    Spinocerebellar ataxia type 6 (SCA6) is linked to poly-glutamine (polyQ) within the C terminus (CT) of the pore-forming subunits of P/Q-type Ca(2+) channels (Cav2...
  54. Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, et al. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol. 2003;60:610-4 pubmed
    Different mutations in the alpha 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6)...
  55. Grochala W. The generalized maximum hardness principle revisited and applied to atoms and molecules. Phys Chem Chem Phys. 2017;19:30964-30983 pubmed publisher
    In this perspective contribution, we revisit the Maximum Hardness Principle (MHP), formulated by Pearson in 1987, and an equivalent Minimum Polarizability Principle (MPP) from Chattaraj and Parr, with particular emphasis on the cases ..
  56. Wiggs J, Pasquale L. Genetics of glaucoma. Hum Mol Genet. 2017;26:R21-R27 pubmed publisher
    ..angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A)...
  57. Szekeres M, MacDermid J, Grewal R, Birmingham T. The short-term effects of hot packs vs therapeutic whirlpool on active wrist range of motion for patients with distal radius fracture: A randomized controlled trial. J Hand Ther. 2018;31:276-281 pubmed publisher
    ..To investigate the immediate effects of using a moist hot pack (MHP) vs therapeutic whirlpool bath (WB) for improving wrist ROM during a therapy session for patients with distal ..
  58. Vecchia D, Tottene A, van den Maagdenberg A, Pietrobon D. Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice. Neurobiol Dis. 2014;69:225-34 pubmed publisher
  59. Choi K, Kim J, Kim H, Jung I, Jeong S, Lee S, et al. Genetic Variants Associated with Episodic Ataxia in Korea. Sci Rep. 2017;7:13855 pubmed publisher
    ..Five genes (KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4) have been linked to EA...
  60. Joe I, Cho G. PDE4 Inhibition by Rolipram Promotes Neuronal Differentiation in Human Bone Marrow Mesenchymal Stem Cells. Cell Reprogram. 2016;18:224-9 pubmed publisher
    ..of the neuronal-specific marker genes Nestin, Musashi, CD133, GFAP, NF-M, MAP-2, KCNH1, KCNH5, SCN3A, and CACNA1A, and decreased expression of other lineage-specific markers Adiponectin, ALP, FABP4, and MMP13...
  61. Catterall W, Perez Reyes E, Snutch T, Striessnig J. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. Pharmacol Rev. 2005;57:411-25 pubmed
    ..This article presents the molecular relationships and physiological functions of these calcium channel proteins and provides comprehensive information on their molecular, genetic, physiological, and pharmacological properties. ..
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    ..1997C>T; p.Thr666Met) in the CACNA1A gene in the proband, the proband's son and in several other family members...
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    ..based on time-varying concentrations and/or addresses: predictions in each year and addresses at baseline (EA2); predictions at baseline and addresses in each year (EA3); and predictions and addresses at baseline (EA4)...
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    Recently, moderate (CAG)>20 repeat expansions in the alpha1A-voltage-dependent calcium channel gene (CACNL1A4) have been identified in a previously unmapped type of SCA which has been named SCA6...
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    ..hemiplegic migraine, episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 are allelic disorders of the CACNA1A gene (coding for the alpha(1A) subunit of P/Q calcium channels), usually associated with different types of ..
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    ..whereas episodic ataxia type 2 (EA-2) is caused by missense and nonsense mutations in the calcium channel gene CACNA1A. These ion channels are crucial for both central and peripheral neurotransmission...
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    ..the incidence of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and frequencies...
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    ..Genetic analysis revealed a spontaneous, novel dominant CACNA1A mutation (c.4046G?A, p...
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    ..This review will summarize recent findings from patients and from mouse models of these diseases that shed light on how these pathways may interact to cause repeat expansion. ..
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    ..mutant spores lacking one or several GRs, we dissect the roles of the GerA, Ynd, and GerK GRs in moderately HP (mHP; 150 MPa)-induced spore germination...
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    Familial hemiplegic migraine type 1 (FHM-1), a rare hereditary form of migraine with aura and hemiparesis, serves as a good model for exploring migraine pathophysiology. The FHM-1 gene encodes the pore-forming Ca(V)2...