Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency-Reference-Cited by-同舟云学术

Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency

Published:2020-11-01 Issue:11 Volume:143 Page:e91-e91
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

von Hardenberg Sandra¹,Richter Manuela F²,Hethey Sven³,Yaspo Marie-Laure⁴,Auber Bernd¹^ORCID,Schlegelberger Brigitte¹,Illig Thomas¹,Guthmann Florian²^ORCID,Christen Hans-Jürgen³,Ripperger Tim¹,Bergmann Anke K¹

Affiliation:

1. Department of Human Genetics, Hannover Medical School, Hannover, Germany

2. Department of Neonatology, Children’s and Youth Hospital Auf der Bult, Hannover, Germany

3. Department of Neuropediatric, Children’s and Youth Hospital Auf der Bult, Hannover, Germany

4. Otto Warburg Laboratory Gene Regulation and Systems Biology of Cancer, Max Planck Institute for Molecular Genetics, Berlin, Germany

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/143/11/e91/36134882/awaa289.pdf

Reference13 articles.

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2. Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase;Asada;Proc Natl Acad Sci USA,1997

3. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy;Chatron;Brain,2020

4. Targeting of the 67-kDa isoform of glutamic acid decarboxylase to intracellular organelles is mediated by its interaction with the NH2-terminal region of the 65-kDa isoform of glutamic acid decarboxylase;Dirkx;J Biol Chem,1995

5. GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop;Fenalti;Nat Struct Mol Biol,2007

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