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

Valence, Stéphanie; Cochet, Emmanuelle; Rougeot, Christelle; Garel, Catherine; Chantot-Bastaraud, Sandra; Lainey, Elodie; Afenjar, Alexandra; Barthez, Marie-Anne; Bednarek, Nathalie; Doummar, Diane; Faivre, Laurence; Goizet, Cyril; Haye, Damien; Heron, Bénédicte; Kemlin, Isabelle; Lacombe, Didier; Milh, Mathieu; Moutard, Marie-Laure; Riant, Florence; Robin, Stéphanie; Roubertie, Agathe; Sarda, Pierre; Toutain, Annick; Villard, Laurent; Ville, Dorothée; Billette de Villemeur, Thierry; Rodriguez, Diana; Burglen, Lydie.
Genet Med; 2018 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-29997391