Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Definition:
References:
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[1]. S Toru, et al. Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J Biol Chem. 2000 Apr 14;275(15):10893-8. [Content Brief]
[2]. Sian D Spacey, et al. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol. 2004 Aug;56(2):213-20. [Content Brief]
[3]. J Jen, et al. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology. 2001 Nov 27;57(10):1843-8. [Content Brief]
[4]. Ester Cuenca-León, et al. Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. J Neurol Sci. 2009 May 15;280(1-2):10-4. [Content Brief]
[5]. M Hans, et al. Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels. Biophys J. 1999 Mar;76(3):1384-400. [Content Brief]
[6]. Nuria García Segarra, et al. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. J Neurol Sci. 2014 Jul 15;342(1-2):69-78. [Content Brief]
[7]. Maria Isabel Bahamonde, et al. A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. PLoS One. 2015 Dec 30;10(12):e0146035. [Content Brief]
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