Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45-Reference-Cited by-全球学者库

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Published:2017-11-24 Issue:1 Volume:59 Page:e5-e13
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Carvill Gemma L.¹,Liu Aijie²,Mandelstam Simone³⁴,Schneider Amy⁵,Lacroix Amy⁶,Zemel Matthew⁶,McMahon Jacinta M.⁵,Bello-Espinosa Luis⁷,Mackay Mark⁴,Wallace Geoffrey⁸,Waak Michaela⁸^ORCID,Zhang Jing²,Yang Xiaoling²,Malone Stephen⁸,Zhang Yue-Hua²,Mefford Heather C.⁶,Scheffer Ingrid E.³⁴⁵⁹

Affiliation:

1. Ken and Ruth Davee Department of Neurology; Northwestern University Feinberg School of Medicine; Chicago IL USA

2. Department of Pediatrics; Peking University First Hospital; Beijing China

3. Florey Institute of Neuroscience and Mental Health; Parkville Victoria Australia

4. Departments of Paediatrics and Radiology; University of Melbourne; Royal Children's Hospital; Melbourne Victoria Australia

5. Epilepsy Research Centre; Department of Medicine; University of Melbourne; Austin Health; Heidelberg Victoria Australia

6. Division of Genetic Medicine; Department of Pediatrics; University of Washington; Seattle WA USA

7. Department of Paediatrics; University of Calgary; Alberta Children's Hospital; Calgary Alberta Canada

8. Department of Neurology; Lady Cilento Children's Hospital; Brisbane Queensland Australia

9. Department of Paediatrics; University of Melbourne; Royal Children's Hospital; Melbourne Victoria Australia

Funder

National Institute of Neurological Disorders and Stroke

National Health and Medical Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13957/fullpdf

Reference15 articles.

1. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA;Haack;Am J Hum Genet,2012

2. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood;Saitsu;Nat Genet,2013

3. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation;Hayflick;Brain,2013

4. WDR45 mutations in three male patients with West syndrome;Nakashima;J Hum Genet,2016

5. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1;Carvill;Nat Genet,2013

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