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.

1. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

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

Cited by 180 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mechanisms of infantile epileptic spasms syndrome: What have we learned from animal models?;Epilepsia;2023-12-18

2. Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials;Contemporary Clinical Trials Communications;2023-12

3. Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child;Cureus;2023-10-04

4. Applications for Deep Learning in Epilepsy Genetic Research;International Journal of Molecular Sciences;2023-09-27

5. Differential responses of disease‐related GRIN variants located in pore‐forming M2 domain of N‐methyl‐D‐aspartate receptor to FDA‐approved inhibitors;Journal of Neurochemistry;2023-08-30