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

doi:10.1038/s41436-018-0089-2

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Article

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 : official journal of the American College of Medical Genetics - 1 Mar 2019

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

Abstract excerpt

PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify new CA genes. METHODS: Singleton -exome sequencing on these 20 well-clinically characterized CA patients. We first checked for rare homozygous pathogenic variants, then, for variants from a list of genes known to be...

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PMID: 29997391
DOI: 10.1038/s41436-018-0089-2

Genes

BRAT1
PIGS
SKOR2
STXBP1

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