Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy-Reference-Cited by-同舟云学术

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

Published:2019-03-01 Issue:3 Volume:76 Page:342
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

Author:

Rumping Lynne¹²³,Büttner Benjamin⁴,Maier Oliver⁵,Rehmann Holger⁶⁷⁸,Lequin Maarten⁹,Schlump Jan-Ulrich¹⁰,Schmitt Bernhard¹¹,Schiebergen-Bronkhorst Birgit¹,Prinsen Hubertus C. M. T.¹,Losa Michele¹²,Fingerhut Ralph¹³,Lemke Johannes R.⁴,Zwartkruis Fried J. T.⁶⁷,Houwen Roderick H. J.³,Jans Judith J. M.¹²,Verhoeven-Duif Nanda M.¹²,van Hasselt Peter M.²,Jamra Rami⁴

Affiliation:

1. Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

2. Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

3. Department of Pediatrics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

4. Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany

5. Department of Neuropediatrics, Development and Rehabilitation, Children's Hospital of Eastern Switzerland, St Gallen, Switzerland

6. Center for Molecular Medicine, Department of Molecular Cancer Research, University Medical Center Utrecht, Utrecht, the Netherlands

7. Oncode Institute, Utrecht, the Netherlands

8. Expertise Centre for Structural Biology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

9. Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

10. Division for Children and Adolescents, Evangelical Hospital Oberhausen, Oberhausen, Germany

11. Department of Child Neurology, University Children's Hospital, Zurich, Switzerland

12. Department of Pediatric Intensive Care and Neonatology, Children's Hospital of Eastern Switzerland, St Gallen, Switzerland

13. Swiss Newborn Screening Laboratory and Children`s Research Center, University Children’s Hospital Zurich, Zurich, Switzerland

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

Link

http:///jamaneurology/article-pdf/76/3/342/17356149/jamaneurology_rumping_2018_oi_180067.pdf

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3. Epileptic encephalopathies-clinical syndromes and pathophysiological concepts.;von Deimling;Curr Neurol Neurosci Rep,2017

4. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.;Olson;Ann Neurol,2017

5. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.;Rauch;Lancet,2012

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