Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
about
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceClinical features and pharmacotherapy of childhood monoamine neurotransmitter disordersThe human flavoproteomeMolecular Basis of Reduced Pyridoxine 5′-Phosphate Oxidase Catalytic Activity in Neonatal Epileptic Encephalopathy DisorderThe pediatric neurotransmitter disordersDe Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyVitamin B6 in plasma and cerebrospinal fluid of childrenGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Conformational dynamics of nonsynonymous variants at protein interfaces reveals disease association.Clinical review of genetic epileptic encephalopathiesDissection of a QTL hotspot on mouse distal chromosome 1 that modulates neurobehavioral phenotypes and gene expression.A nutritional conditional lethal mutant due to pyridoxine 5'-phosphate oxidase deficiency in Drosophila melanogaster.Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin SynthesisCommon Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy AdultsDegradation of Stop Codon Read-through Mutant Proteins via the Ubiquitin-Proteasome System Causes Hereditary DisordersPartial Pyridoxine Responsiveness in PNPO Deficiency.Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review.Metabolic causes of epileptic encephalopathyPNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French PatientsEpilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.Pyridoxine responsiveness in novel mutations of the PNPO gene.Epilepsy in children--when should we think neurometabolic disease?Protein oxidation in Huntington disease.Inborn errors of metabolism causing epilepsy.Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures.Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Lysine acetylation regulates the activity of Escherichia coli pyridoxine 5'-phosphate oxidase.De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.The role of genetic testing in epilepsy diagnosis and management.
P2860
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P2860
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@ast
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@en
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@nl
type
label
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@ast
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@en
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@nl
prefLabel
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@ast
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@en
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@nl
P2093
P2860
P3181
P356
P1476
Neonatal epileptic encephalopa ...... ox(am)ine 5'-phosphate oxidase
@en
P2093
Anthony Briddon
Clare E Beesley
Georg F Hoffmann
Irene Scheimberg
Johannes Zschocke
Michael P Champion
Neil Dalton
Peter T Clayton
Robert A H Surtees
Simon J R Heales
P2860
P304
P3181
P356
10.1093/HMG/DDI120
P407
P577
2005-04-15T00:00:00Z