Pyridox(am)ine-5-phosphate oxidase deficiency treatable cause of neonatal epileptic encephalopathy with burst suppression: Case report and review of the literature

Journal of Child Neurology

Volumn 30, Issue 9, 2015, Pages 1218-1225

  Guerin, Andrea ^a   Aziz, Aly S ^b   Mutch, Carly ^b   Lewis, Jillian ^a   Go, Cristina Y ^b   Mercimek Mahmutoglu, Saadet ^a,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

neonatal epilepsy; neonatal myoclonic encephalopathy; Ohtahara syndrome; pyridox(am)ine 5 phosphate oxidase; pyridoxal 5 phosphate

Indexed keywords

FOLINIC ACID; MIDAZOLAM; PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE;

CASE REPORT; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; HUMAN; INFANT; LENNOX GASTAUT SYNDROME; NERVE CELL DIFFERENTIATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; PYRIDOXAMINE PHOSPHATE OXIDASE DEFICIENCY; REVIEW; TONIC SEIZURE; BRAIN DISEASES, METABOLIC; COMPLICATION; DEFICIENCY; HYPOXIA-ISCHEMIA, BRAIN; MEDLINE; SEIZURES; SPASMS, INFANTILE; STATISTICS AND NUMERICAL DATA;

BRAIN DISEASES, METABOLIC; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; HYPOXIA-ISCHEMIA, BRAIN; INFANT; PUBMED; PYRIDOXAMINEPHOSPHATE OXIDASE; SEIZURES; SPASMS, INFANTILE;

EID: 84937540902     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073814550829     Document Type: Review

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