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

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

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

Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

Andrew Escayg, Michel De Waard, David D. Lee et al. · The American Journal of Human Genetics · 2000 · 417 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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