Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

Pediatric Neurology

Volumn 59, Issue , 2016, Pages 6-12

  Van Karnebeek, Clara D M ^a,b   Tiebout, Sylvia A ^a   Niermeijer, Jikkemien ^c   Poll The, Bwee Tien ^d   Ghani, Aisha ^a,b   Coughlin, Curtis R ^e   Van Hove, Johan L K ^e   Richter, Jost Wigand ^f   Christen, Hans Juergen ^f   Gallagher, Renata ^g   Hartmann, Hans ^h   Stockler Ipsiroglu, Sylvia ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Treatable Intellectual Disability Endeavor in British Columbia (TIDE BC)   (Canada)

^c TweeSteden Hospital   (Netherlands)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e Nutrition Obesity Research Center at the University of Colorado   (United States)

^f Children's Hospital Auf der Bult   (Germany)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

B6 vitamer; lysine catabolism; Metabolic epilepsy; neonatal encephalopathy; seizures; treatment

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; ALDEHYDE DEHYDROGENASE; ALDH7A1 PROTEIN; ALLYSINE; FOLINIC ACID; LEVETIRACETAM; LIDOCAINE; MORPHINE; NEUROTRANSMITTER; PHENOBARBITAL; PHENYTOIN; PIPECOLIC ACID; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; TOPIRAMATE; UNCLASSIFIED DRUG;

ANTICONVULSANT THERAPY; AUTOSOMAL RECESSIVE DISORDER; BRAIN HEMORRHAGE; CASE REPORT; CEREBELLUM DISEASE; CLINICAL FEATURE; DIET SUPPLEMENTATION; DOSE RESPONSE; ELECTROLYTE DISTURBANCE; ENTEROCOLITIS; EPILEPTIC STATE; FEMALE; FOLIC ACID DEFICIENCY; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; HYPOGLYCEMIA; INFANT; INFANTILE SPASM; LACTIC ACIDOSIS; MALE; METABOLIC ENCEPHALOPATHY; MONOTHERAPY; MYOCLONUS; NEWBORN SEPSIS; PERINATAL ASPHYXIA; PHENOTYPE; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; REVIEW; SINGLE DRUG DOSE; STARTLE EPILEPSY; TREATMENT RESPONSE; VIGNETTE; WHITE MATTER LESION; WITHDRAWAL SYNDROME; EPILEPSY; GENETICS; PATHOPHYSIOLOGY;

EPILEPSY; HUMANS; PHENOTYPE;

EID: 84961226918     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2015.12.013     Document Type: Review

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