Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies - Aix-Marseille Université Access content directly
Journal Articles Genetics in Medicine Year : 2019

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

Sandra Chantot-Bastaraud
Alexandra Afenjar
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Marie-Anne Barthez
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Nathalie Bednarek
Diane Doummar
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  • PersonId : 953196
Laurence Faivre
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  • PersonId : 856301
Bénédicte Heron
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  • PersonId : 942114
Florence Riant
Stéphanie Robin
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Agathe Roubertie
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Annick Toutain
Dorothée Ville
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Thierry Billette de Villemeur
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  • PersonId : 925170
Diana Rodriguez
Lydie Burglen

Dates and versions

hal-01932802 , version 1 (23-11-2018)

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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, 2019, 21 (3), pp.553-563. ⟨10.1038/s41436-018-0089-2⟩. ⟨hal-01932802⟩
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