Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

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

Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1

Katharina Eikermann‐Haerter, Ergin Dileköz, Chiho Kudo et al. · Journal of Clinical Investigation · 2008 · 285 citations · Full text

Life Sciences, Neurology, Neuroscience +16

A population‐based study of familial hemiplegic migraine suggests revised diagnostic criteria

L. L. Thomsen, M K Eriksen, Shanu F. Roemer et al. · Brain · 2002 · 242 citations

Life Sciences, Neurology, Cognitive Neurology +12

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

Michael Strupp, R. Kalla, Christine Adrion et al. · Neurology · 2011 · 208 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +13

Eye movement disorders are an early manifestation of <i><scp>CACNA</scp>1A</i> mutations in children

Esther Tantsis, Deepak Gill, Lyn R. Griffiths et al. · Developmental Medicine & Child Neurology · 2016 · 81 citations · Full text

Life Sciences, Genetics, Neurology +16