CACNA1A

Species Homo sapiens
Alternate Name(s) EA2, FHM, MHP, APCA, HPCA, MHP1, SCA6, CACNL1A4
Description calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Chromosome 19
Locus 19p13.2-p13.1
Mouse Homolog Cacna1a
Protein Alignment Homo sapiens:

Mus musculus:
Reference(s) Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, Asherson P, Makoff AJ. Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology. 2001 May 8;56(9):1245-6.

Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG. Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology. 2005 Sep 27;65(6):944-6.

Imbrici P, Jaffe SL, Eunson LH, Davies NP, Herd C, Robertson R, Kullmann DM, Hanna MG. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain. 2004 Dec;127(Pt 12):2682-92.

Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, Hanna MG. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet. 2001 Sep 8;358(9284):801-7..

Sander T, Toliat MR, Heils A, Becker C, Nurnberg P. 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. Epilepsy Res. 2002 Apr;49(2):173-7.

Spadaro M, Ursu S, Lehmann-Horn F, Liana V, Giovanni A, Paola G, Frontali M, Jurkat-Rott K. A G301R Na(+)/K(+)-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. Neurogenetics. 2004 Jul 31 [Epub ahead of print].

Vahedi K, Denier C, Ducros A, Bousson V, Levy C, Chabriat H, Haguenau M, Tournier-Lasserve E, Bousser MG. CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. Neurology. 2000 Oct 10;55(7):1040-2.

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