Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

Life Sciences, Neurology, Neuroscience +16

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Life Sciences, Genetics, Neurology +16

The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel

Anne Ducros, Christian Denier, Anne Joutel et al. · New England Journal of Medicine · 2001 · 561 citations · Full text

Life Sciences, Genetics, Neurology +16

Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

Carla Jodice, Elide Mantuano, Liana Veneziano et al. · Human Molecular Genetics · 1997 · 294 citations · Full text

Life Sciences, Genetics, Neurology +16

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

Christian Denier, Anne Ducros, Katayoun Vahedi et al. · Neurology · 1999 · 208 citations

Life Sciences, Genetics, Neurology +17