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

Brain

Volumn 137, Issue 5, 2014, Pages 1350-1360

  Mills, Philippa B ^a   Camuzeaux, Stephane S M ^a   Footitt, Emma J ^a,b   Mills, Kevin A ^a   Gissen, Paul ^a,b   Fisher, Laura ^a   Das, Krishna B ^b   Varadkar, Sophia M ^b   Zuberi, Sameer ^c   McWilliam, Robert ^c   Stödberg, Tommy ^d   Plecko, Barbara ^e   Baumgartner, Matthias R ^e   Maier, Oliver ^f   Calvert, Sophie ^g   Riney, Kate ^g   Wolf, Nicole I ^h   Livingston, John H ⁱ   Bala, Pronab ^j   Morel, Chantal F ^k   Feillet, Franĉois ^l   Raimondi, Francesco ^m   Del Giudice, Ennio ^m   Chong, W Kling ^b   Pitt, Matthew ^b   Clayton, Peter T ^a,b   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f Hospital of Eastern Switzerland Department of Child Neurology Development and Rehabilitation   (Switzerland)

^g MATER CHILDREN S HOSPITAL   (Australia)

^h VU UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ LEEDS GENERAL INFIRMARY   (United Kingdom)

^j Airedale NHS Trust   (United Kingdom)

^k UNIVERSITY HEALTH NETWORK   (Canada)

^l HÔPITAL D ENFANTS   (France)

^m UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

epilepsy; pyridox(am)ine 5' phosphate oxidase (PNPO); pyridoxal 5' phosphate (PLP); pyridoxine; seizures

Indexed keywords

FLAVINE MONONUCLEOTIDE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; RIBOFLAVIN;

ARTICLE; BRAIN EDEMA; CELL FREE SYSTEM; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; GENE; GENE EXPRESSION SYSTEM; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; HUMAN CELL; INDEL MUTATION; INFANT; INFANTILE SPASM; INFERTILITY; MAJOR CLINICAL STUDY; MASS SPECTROMETRY; MISSENSE MUTATION; MOTHER; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PNPO GENE; PREMATURITY; PRIORITY JOURNAL; PYRIDOXAMINE PHOSPHATE OXIDASE DEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; SPONTANEOUS ABORTION; TREATMENT RESPONSE; VITAMIN SUPPLEMENTATION; WHITE MATTER;

EPILEPSY; PYRIDOX(AM)INE 5'-PHOSPHATE OXIDASE (PNPO); PYRIDOXAL 5'-PHOSPHATE (PLP); PYRIDOXINE; SEIZURES;

ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; ENVIRONMENT; EPILEPSY; FEMALE; HELA CELLS; HUMANS; INFANT; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PYRIDOXAL PHOSPHATE; PYRIDOXAMINEPHOSPHATE OXIDASE; TRANSFECTION; YOUNG ADULT;

EID: 84899807917     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu051     Document Type: Article

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