Concepedia

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Chloé Angelini, Julien Van‐Gils, Antoine Bigourdan, Pierre‐Simon Jouk, Didier Lacombe, Patrice Ménégon, Sébastien Moutton, Florence Riant, Guilhem Solé, Elisabeth Tournier‐Lasserve,

European Journal of Medical Genetics · 2018 · 57 citations · 12 references

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12

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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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

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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

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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

The American Journal of Human Genetics · 2016 · 305 citations · Full text

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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

Léna Damaj, Alexis Lupien‐Meilleur, Anne Lortie et al. · European Journal of Human Genetics · 2015 · 214 citations

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