Confirmation of mutations inPROSCas a novel cause of vitamin B6-dependent epilepsy-Reference-Cited by-同舟云学术

Confirmation of mutations inPROSCas a novel cause of vitamin B6-dependent epilepsy

Published:2017-04-08 Issue:12 Volume:54 Page:809-814
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Plecko Barbara,Zweier Markus,Begemann Anaïs^ORCID,Mathis Deborah,Schmitt Bernhard,Striano Pasquale,Baethmann Martina,Vari Maria Stella,Beccaria Francesca,Zara Federico,Crowther Lisa M,Joset Pascal,Sticht Heinrich,Papuc Sorina Mihaela,Rauch Anita

Funder

University of Zurich

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause Vitamin-B6-Dependent epilepsy;Darin;Am J Hum Genet,2016

2. Treatable newborn and infant seizures due to inborn errors of metabolism;Campistol;Epileptic Disord,2015

3. B6-responsive disorders: a model of vitamin dependency;Clayton;J Inherit Metab Dis,2006

4. Alanine-glyoxylate aminotransferase 2 (AGXT2) polymorphisms have considerable impact on methylarginine and β-aminoisobutyrate metabolism in healthy volunteers;Kittel;PLoS One,2014

5. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies;Mathis;J Inherit Metab Dis,2016

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