Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
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Vitamin B6 in plasma and cerebrospinal fluid of childrenA preterm neonate with seizures unresponsive to conventional treatment.Genetic forms of epilepsies and other paroxysmal disordersNormal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.The genetics of the epilepsies.Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.Current treatment and management of pyridoxine-dependent epilepsy.Pharmacogenomics in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Genetics of Epilepsy in Clinical Practice.Inactive mutants of human pyridoxine 5'-phosphate oxidase: a possible role for a noncatalytic pyridoxal 5'-phosphate tight binding site.Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.Dietary Reference Values for vitamin B6Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer.Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.Vitamin B6 is essential for serine de novo biosynthesis.Novel phenotypes of pyridox(am)ine-5'-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.
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P2860
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 18 March 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@en
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@nl
type
label
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@en
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@nl
prefLabel
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@en
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@nl
P2093
P2860
P50
P356
P1433
P1476
Epilepsy due to PNPO mutations ...... fect presentation and outcome.
@en
P2093
Barbara Plecko
Chantal F Morel
Emma J Footitt
Ennio Del Giudice
Francesco Raimondi
François Feillet
John H Livingston
Kevin A Mills
Krishna B Das
Laura Fisher
P2860
P304
P356
10.1093/BRAIN/AWU051
P407
P577
2014-03-18T00:00:00Z