Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation-Reference-Cited by-同舟云学术

Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation

Published:2017-09 Issue:1-2 Volume:122 Page:135-142
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

di Salvo Martino L.,Mastrangelo Mario,Nogués Isabel^ORCID,Tolve Manuela,Paiardini Alessandro,Carducci Carla,Mei Davide,Montomoli Martino,Tramonti Angela^ORCID,Guerrini Renzo,Contestabile Roberto^ORCID,Leuzzi Vincenzo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Neonatal epileptic encephalopathy;Clayton;Lancet,1614

2. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase;Mills;Hum. Mol. Genet.,2005

3. Disorders of Neurotransmission. Inborn Metabolic Diseases;Garcia-Cazorla,2012

4. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32;Steffens;Hum. Mol. Genet.,2012

5. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome;Mills;Brain,2014

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