Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysi...
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
About this item
Full title
Author / Creator
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 and Burglen, Lydie
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
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 p...
Alternative Titles
Full title
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_01932802v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_01932802v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0089-2
