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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Stephanie Valence 1, 2 Emmanuelle Cochet 3 Christelle Rougeot 4 Catherine Garel 1 Sandra Chantot-Bastaraud 5 Elodie Lainey 6 Alexandra Afenjar 1 Marie-Anne Barthez Nathalie Bednarek Diane Doummar 7 Laurence Faivre 8 Cyril Goizet 9 Damien Haye 10 Bénédicte Heron 1 Isabelle Kemlin 11 Didier Lacombe 12 Mathieu Milh 13, 14 Marie-Laure Moutard 1 Florence Riant 15 Stéphanie Robin 16 Agathe Roubertie 17 Pierre Sarda 18 Annick Toutain 10 Laurent Villard 14 Dorothée Ville 14 Thierry Billette de Villemeur 1 Diana Rodriguez 19 Lydie Burglen 20
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Submitted on : Friday, November 23, 2018 - 1:10:28 PM
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Stephanie Valence, Emmanuelle Cochet, Christelle Rougeot, Catherine Garel, Sandra Chantot-Bastaraud, et al.. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in Medicine, Nature Publishing Group, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩. ⟨hal-01932802⟩

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