Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient

Pediatrics

Volumn 133, Issue 4, 2014, Pages

  Jain Ghai, Shailly ^a   Mishra, Navin ^b   Hahn, Cecil ^b   Blaser, Susan ^c   Mercimek Mahmutoglu, Saadet ^d,e  

^a UNIVERSITY OF ALBERTA   (Canada)

^b Division of Neurology   (Canada)

^c Division of Neuroradiology   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

ALDHA71 deficiency; Pyridoxine dependent epilepsy; Subependymal cysts; Ventriculomegaly

Indexed keywords

2 AMINOADIPIC ACID; ETIRACETAM; LORAZEPAM; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE;

ALDH7A1 GENE; ARTICLE; BILATERAL SUBEPENDYMAL CYST; BRAIN VENTRICLE DILATATION; CASE REPORT; CLONIC SEIZURE; CYST; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG WITHDRAWAL; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FEEDING DIFFICULTY; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GENETIC DISORDER; GESTATIONAL AGE; HOSPITAL DISCHARGE; HUMAN; HYPONATREMIA; INFANT; INFANTILE SPASM; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL PERIOD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PYRIDOXINE DEPENDENT EPILEPSY; TONIC CLONIC SEIZURE; TREATMENT RESPONSE; VOMITING;

ALDHA71 DEFICIENCY; PYRIDOXINE DEPENDENT EPILEPSY; SUBEPENDYMAL CYSTS; VENTRICULOMEGALY;

BRAIN DISEASES; CYSTS; EPENDYMA; EPILEPSY; FETAL DISEASES; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; MALE;

EID: 84898734865     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-1230     Document Type: Article

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