Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Molecular Determinants of CaV2.1 Channel Regulation by Calcium-binding Protein-1

(2011) Alexandra P. Few et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

(2010) Elide Mantuano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

N Terminus Is Key to the Dominant Negative Suppression of CaV2 Calcium Channels

(2009) Karen M. Page et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

(2009) R W Labrum et al.   JOURNAL OF MEDICAL GENETICS

Identification of CACNA1A large deletions in four patients with episodic ataxia

(2009) Florence Riant et al.   NEUROGENETICS

Large CACNA1A Deletion in a Family With Episodic Ataxia Type 2

(2008) Florence Riant et al.   ARCHIVES OF NEUROLOGY

A Destructive Interaction Mechanism Accounts for Dominant-Negative Effects of Misfolded Mutants of Voltage-Gated Calcium Channels

(2008) A. Mezghrani et al.   JOURNAL OF NEUROSCIENCE