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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin, Jean; Siquier-Pernet, Karine; Nicouleau, Michaël; Barcia, Giulia; Ahmad, Ali; Medina-Cano, Daniel; Hanein, Sylvain; Altin, Nami; Hubert, Laurence; Bole-Feysot, Christine; Fourage, Cécile; Nitschké, Patrick; Thevenon, Julien; Rio, Marlène; Blanc, Pierre; Vidal, Céline; Bahi-Buisson, Nadia; Desguerre, Isabelle; Munnich, Arnold; Lyonnet, Stanislas; Boddaert, Nathalie; Fassi, Emily; Shinawi, Marwan; Zimmerman, Holly; Amiel, Jeanne; Faivre, Laurence; Colleaux, Laurence; Lory, Philippe; Cantagrel, Vincent.
Afiliação
  • Chemin J; IGF, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Siquier-Pernet K; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.
  • Nicouleau M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Barcia G; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Ahmad A; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Medina-Cano D; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Hanein S; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Altin N; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Hubert L; IGF, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Bole-Feysot C; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.
  • Fourage C; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Nitschké P; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Thevenon J; Translational Genetics, INSERM UMR, Imagine Institute, Paris, France.
  • Rio M; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Blanc P; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Vidal C; Translational Genetics, INSERM UMR, Imagine Institute, Paris, France.
  • Bahi-Buisson N; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Genomic Core Facility, Paris, France.
  • Desguerre I; Paris-Descartes Sorbonne Paris-Cité University, Imagine Institute, Bioinformatics Core Facility, Paris, France.
  • Munnich A; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.
  • Lyonnet S; Paris-Descartes Sorbonne Paris-Cité University, Imagine Institute, Bioinformatics Core Facility, Paris, France.
  • Boddaert N; Centre de Génétique et Centre de Référence "Anomalies du Développement et Syndromes Malformatifs", Hôpital d'Enfants, CHU Dijon, Dijon, France.
  • Fassi E; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Shinawi M; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.
  • Zimmerman H; Laboratory of developmental brain disorders, INSERM UMR, Paris, France.
  • Amiel J; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.
  • Faivre L; Translational Genetics, INSERM UMR, Imagine Institute, Paris, France.
  • Colleaux L; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Lory P; Laboratory of embryology and genetics of congenital malformations, INSERM UMR1163, Paris, France.
  • Cantagrel V; Service de neurologie pédiatrique, Necker Enfants Malades University Hospital, APHP, Paris, France.
Brain ; 141(7): 1998-2013, 2018 07 01.
Article em En | MEDLINE | ID: mdl-29878067
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Canais de Cálcio Tipo T Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Canais de Cálcio Tipo T Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França