Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression

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

(2014) P. B. Mills et al.   BRAIN

Pyridoxine responsiveness in novel mutations of the PNPO gene

(2014) B. Plecko et al.   NEUROLOGY

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

(2013) Tyson L Ware et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5′-Phosphate Oxidase Deficiency: A Case Report

(2013) Stephanie Porri et al.   NEUROPEDIATRICS

Seizures With Decreased Levels of Pyridoxal Phosphate in Cerebrospinal Fluid

(2013) Monisha Goyal et al.   PEDIATRIC NEUROLOGY

Early-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy

(2012) Jules C. Beal et al.   PEDIATRIC NEUROLOGY

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

(2011) Aravindhan Veerapandiyan et al.   EPILEPSY & BEHAVIOR

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURST: OHTAHARA SYNDROME

(2010) M. Clarke et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

(2010) BERNHARD SCHMITT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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