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Zhou, V. CACNA1A Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5030 (accessed on 22 September 2026).
Zhou V. CACNA1A Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5030. Accessed September 22, 2026.
Zhou, Vicky. "CACNA1A Gene" Encyclopedia, https://encyclopedia.pub/entry/5030 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CACNA1A Gene. In Encyclopedia. https://encyclopedia.pub/entry/5030
Zhou, Vicky. "CACNA1A Gene." Encyclopedia. Web. 24 December, 2020.
CACNA1A Gene
Edit

calcium voltage-gated channel subunit alpha1 A

genes

References

  1. Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J. Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mentalretardation and epilepsy with infantile spasms. Epilepsia. 2009Nov;50(11):2501-3. doi: 10.1111/j.1528-1167.2009.02189.x.
  2. de Vries B, Freilinger T, Vanmolkot KR, Koenderink JB, Stam AH, Terwindt GM,Babini E, van den Boogerd EH, van den Heuvel JJ, Frants RR, Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. Systematic analysis of three FHMgenes in 39 sporadic patients with hemiplegic migraine. Neurology. 2007 Dec4;69(23):2170-6.
  3. Jeng CJ, Sun MC, Chen YW, Tang CY. Dominant-negative effects of episodicataxia type 2 mutations involve disruption of membrane trafficking of humanP/Q-type Ca2+ channels. J Cell Physiol. 2008 Feb;214(2):422-33.
  4. Kors EE, Haan J, Giffin NJ, Pazdera L, Schnittger C, Lennox GG, Terwindt GM,Vermeulen FL, Van den Maagdenberg AM, Frants RR, Ferrari MD. Expanding thephenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5families with familial hemiplegic migraine. Arch Neurol. 2003 May;60(5):684-8.
  5. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA,Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, LeeB, Bellen HJ, Wangler MF; Members of the UDN. Clinically severe CACNA1A allelesaffect synaptic function and neurodegeneration differentially. PLoS Genet. 2017Jul 24;13(7):e1006905. doi: 10.1371/journal.pgen.1006905.
  6. Nimmakayalu M, Horton VK, Darbro B, Patil SR, Alsayouf H, Keppler-Noreuil K,Shchelochkov OA. Apparent germline mosaicism for a novel 19p13.13 deletiondisrupting NFIX and CACNA1A. Am J Med Genet A. 2013 May;161A(5):1105-9. doi:10.1002/ajmg.a.35790.
  7. Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Dysfunction of the Ca(V)2.1calcium channel in cerebellar ataxias. F1000 Biol Rep. 2010 Jan 18;2. pii: 4.doi: 10.3410/B2-4.
  8. Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E. Denovo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadichemiplegic migraine. Neurology. 2010 Sep 14;75(11):967-72. doi:10.1212/WNL.0b013e3181f25e8f.
  9. Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R,Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27patients with sporadic hemiplegic migraine. Arch Neurol. 2002 Jun;59(6):1016-8.Review.
  10. Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C,Pietrobon D. Familial hemiplegic migraine mutations increase Ca(2+) influxthrough single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):13284-9.
  11. Wan J, Khanna R, Sandusky M, Papazian DM, Jen JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.Neurology. 2005 Jun 28;64(12):2090-7.
  12. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB,Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6)associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9.
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