Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Seizures With Decreased Levels of Pyridoxal Phosphate in Cerebrospinal Fluid

(2013) Monisha Goyal et al.   PEDIATRIC NEUROLOGY

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(2012) et al.   HUMAN MOLECULAR GENETICS

Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method

(2012) Emma J. Footitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Vitamin B6 Vitamer Concentrations in Cerebrospinal Fluid Differ Between Preterm and Term Newborn Infants

(2012) M. Albersen et al.   PEDIATRICS

Electroencephalographic and seizure manifestations of pyridoxal 5′-phosphate-dependent epilepsy

(2011) Aravindhan Veerapandiyan et al.   EPILEPSY & BEHAVIOR

Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele

(2011) Angela Polizzi et al.   GENETICS AND MOLECULAR BIOLOGY

Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration

(2011) Emma J. Footitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

(2010) Philippa B. Mills et al.   BRAIN

Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations

(2009) Toshiko Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway

(2009) Aditi Hazra et al.   HUMAN MOLECULAR GENETICS

Molecular Basis of Reduced Pyridoxine 5′-Phosphate Oxidase Catalytic Activity in Neonatal Epileptic Encephalopathy Disorder

(2009) Faik N. Musayev et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pyridoxal 5′-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients

(2008) Aida Ormazabal et al.   MOLECULAR GENETICS AND METABOLISM

PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism

(2008) Morad Khayat et al.   MOLECULAR GENETICS AND METABOLISM

A new fatal case of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency

(2007) Angeles Ruiz et al.   MOLECULAR GENETICS AND METABOLISM