De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene-Reference-Cited by-同舟云学术

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Published:2018-06-05 Issue:7 Volume:141 Page:1998-2013
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Chemin Jean¹²,Siquier-Pernet Karine³⁴,Nicouleau Michaël³⁴,Barcia Giulia³⁴,Ahmad Ali¹²,Medina-Cano Daniel³⁴,Hanein Sylvain⁵,Altin Nami³⁴,Hubert Laurence⁵,Bole-Feysot Christine⁶,Fourage Cécile⁷⁸,Nitschké Patrick⁷,Thevenon Julien⁹,Rio Marlène⁴⁸,Blanc Pierre⁴⁸,vidal Céline⁵,Bahi-Buisson Nadia³¹⁰¹¹,Desguerre Isabelle³¹¹,Munnich Arnold³⁸,Lyonnet Stanislas³⁸¹⁰,Boddaert Nathalie³¹²¹³,Fassi Emily¹⁴,Shinawi Marwan¹⁴,Zimmerman Holly¹⁵,Amiel Jeanne³⁸¹⁰,Faivre Laurence⁹,Colleaux Laurence³⁴,Lory Philippe¹²,Cantagrel Vincent³⁴

Affiliation:

1. IGF, CNRS, INSERM, University of Montpellier, Montpellier, France

2. LabEx ‘Ion Channel Science and Therapeutics’, Montpellier, France

3. Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France

4. Laboratory of developmental brain disorders, INSERM UMR, Paris, France

5. Translational Genetics, INSERM UMR, Imagine Institute, Paris, France

6. Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Genomic Core Facility, Paris, France

7. Paris-Descartes Sorbonne Paris-Cité University, Imagine Institute, Bioinformatics Core Facility, Paris, France

8. Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France

9. Centre de Génétique et Centre de Référence “Anomalies du Développement et Syndromes Malformatifs”, Hôpital d’Enfants, CHU Dijon, Dijon, France

10. Laboratory of embryology and genetics of congenital malformations, INSERM UMR1163, Paris, France

11. Service de neurologie pédiatrique, Necker Enfants Malades University Hospital, APHP, Paris, France

12. Pediatric Radiology Department, Necker Enfants Malades University Hospital, APHP, Paris, France

13. Image - Institut Imagine, INSERM UMR1163 and INSERM U1000, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France

14. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA

15. Division of Genetics, Department of Pediatrics, University of Mississippi Medical Center, 2500N State St, Jackson, MS, USA

Funder

FRM

l’Agence Nationale de la Recherche

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/141/7/1998/25094663/awy145.pdf

Reference64 articles.

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2. Osteogenesis imperfecta type I caused by COL1A1 deletions;Bardai;Calcif Tissue Int,2016

3. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects;Beck;Neurogenetics,2016

4. Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Ca(v)1.2 channels;Bidaud;Biochimie,2011

5. Rebound excitation triggered by synaptic inhibition in cerebellar nuclear neurons is suppressed by selective T-type calcium channel block;Boehme;J Neurophysiol,2011

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