Exome Sequencing in Congenital Ataxia Identifies Two New Candidate Genes and Highlights a Pathophysiological Link Between Some Congenital Ataxias and Early Infantile Epileptic Encephalopathies. Stéphanie Valence , Emmanuelle Cochet , Christelle Rougeot , Catherine Garel , Sandra Chantot-Bastaraud , Elodie Lainey , Alexandra Afenjar , Marie-Anne Barthez , Nathalie Bednarek , Diane Doummar , Laurence Faivre , Cyril Goizet , Damien Haye , Bénédicte Heron , Isabelle Kemlin , Didier Lacombe , Mathieu Milh , Marie-Laure Moutard , Florence Riant , Stéphanie Robin , Agathe Roubertie , Pierre Sarda , Annick Toutain , Laurent Villard , Dorothée Ville , Thierry Billette de Villemeur , Diana Rodriguez , Lydie Burglen Genetics in medicine（2019）
关键词
Congenital ataxia, exome sequencing, Cerebellar atrophy, Early infantile epileptic encephalopathies, Pathophysiology
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