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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
CACNA1A
gene.
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 FHM genes in 39 sporadic patients with hemiplegic migraine. Neurology. 2007 Dec 4;69(23):2170-6.
PubMed citation
Entrez
Gene
Jeng CJ, Sun MC, Chen YW, Tang CY. Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels. J Cell Physiol. 2008 Feb;214(2):422-33.
PubMed citation
Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007 Oct;130(Pt 10):2484-93. Epub 2007 Jun 15. Review.
PubMed citation
Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics. 2007 Apr;4(2):285-94. Review.
PubMed citation
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 the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. Arch Neurol. 2003 May;60(5):684-8.
PubMed citation
Pietrobon D. Familial hemiplegic migraine. Neurotherapeutics. 2007 Apr;4(2):274-84. Review.
PubMed citation
Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias. F1000 Biol Rep. 2010 Jan 18;2. doi:pii: 4. 10.3410/B2-4.
PubMed citation
Strupp M, Zwergal A, Brandt T. Episodic ataxia type 2. Neurotherapeutics. 2007 Apr;4(2):267-73. Review.
PubMed citation
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 27 patients with sporadic hemiplegic migraine. Arch Neurol. 2002 Jun;59(6):1016-8. Review.
PubMed citation
Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C, Pietrobon D. 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 Oct 1;99(20):13284-9. Epub 2002 Sep 16.
PubMed citation
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.
PubMed citation
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.
PubMed citation
Reviewed: February 2011
Published: May 13, 2013
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