Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Author:

van Karnebeek Clara D.M.,Ramos Rúben J.,Wen Xiao-Yan,Tarailo-Graovac Maja,Gleeson Joseph G.,Skrypnyk Cristina,Brand-Arzamendi Koroboshka,Karbassi Farhad,Issa Mahmoud Y.,van der Lee Robin,Drögemöller Britt I.,Koster Janet,Rousseau Justine,Campeau Philippe M.,Wang Youdong,Cao Feng,Li Meng,Ruiter Jos,Ciapaite Jolita,Kluijtmans Leo A.J.,Willemsen Michel A.A.P.,Jans Judith J.,Ross Colin J.,Wintjes Liesbeth T.,Rodenburg Richard J.,Huigen Marleen C.D.G.,Jia Zhengping,Waterham Hans R.,Wasserman Wyeth W.,Wanders Ronald J.A.,Verhoeven-Duif Nanda M.,Zaki Maha S.,Wevers Ron A.

Funder

Canadian Institutes of Health Research

Rare Diseases Foundation

National Ataxia Foundation

Canadian Rare Diseases Model Organisms and Mechanisms Network

Michael Smith Foundation for Health Foundation Research Scholar Award

Foundation Metakids

Netherlands Organization for Scientific Research

Genome Canada

Engineering Research Council of Canada

Brain Canada Foundation

Canada Foundation for Innovation

NIH

QNRF

Simons Foundation Autism Research Initiative

Rady Children’s Institute for Genomic Medicine

Howard Hughes Medical Institute

E.C. Noyons foundation

Broad Institute

Yale Center for Mendelian Disorders

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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