GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy-Reference-Cited by-同舟云学术

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

Published:2014-01 Issue:1 Volume:75 Page:147-154
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Lemke Johannes R.¹²,Hendrickx Rik³⁴,Geider Kirsten⁵,Laube Bodo⁵,Schwake Michael⁶,Harvey Robert J.⁷,James Victoria M.⁷,Pepler Alex⁷⁸,Steiner Isabelle⁸,Hörtnagel Konstanze⁸,Neidhardt John⁹,Ruf Susanne¹⁰,Wolff Markus¹⁰,Bartholdi Deborah¹¹,Caraballo Roberto¹²,Platzer Konrad¹³,Suls Arvid²³,De Jonghe Peter²³⁴¹⁴,Biskup Saskia⁸¹¹¹⁵,Weckhuysen Sarah²³⁴

Affiliation:

1. Division of Human Genetics; University Children's Hospital Inselspital; Bern Switzerland

2. Partners of EuroEPINOMICS, RES consortium

3. Neurogenetics Group, Department of Molecular Genetics; Vlaams Institute of Biotechnology; Antwerp Belgium

4. Laboratory of Neurogenetics; Institute Born-Bunge, University of Antwerp; Antwerp Belgium

5. Department of Neurophysiology and Neurosensory Systems; Technical University Darmstadt; Darmstadt Germany

6. Biochemistry III, Faculty of Chemistry; University of Bielefeld; Bielefeld Germany

7. Department of Pharmacology; University College London School of Pharmacy; London United Kingdom

8. CeGaT GmbH; Tübingen Germany

9. Institute of Medical Molecular Genetics; University of Zurich; Switzerland

10. Department of Neuropediatrics; University of Tübingen; Tübingen Germany

11. Institute of Clinical Genetics; Klinikum Stuttgart Stuttgart Germany

12. Department of Neurology; Juan P. Garrahan Pediatric Hospital; Buenos Aires Argentina

13. Department of Human Genetics; University of Lübeck; Lübeck Germany

14. Department of Neurology; Antwerp University Hospital; Antwerp Belgium

15. Hertie Institute of Clinical Brain Research and German Center for Neurodegenerative Diseases; University of Tübingen; Tübingen Germany

Funder

Swiss National Science Foundation

European Science Foundation

Medical Research Council

Deutsche Forschungsgemeinschaft

German Federal Ministry for Education and Research

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24073/fullpdf

Reference30 articles.

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2. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX;Stromme;Brain Dev,2002

3. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation;Kalscheuer;Am J Hum Genet,2003

4. Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay;Saitsu;Am J Hum Genet,2010

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