Pyridoxine-dependent seizures: A family phenotype that leads to severe cognitive deficits, regardless of treatment regime

Developmental Medicine and Child Neurology

Volumn 49, Issue 4, 2007, Pages 300-305

  Rankin, Peter M ^a   Harrison, Sue ^a   Chong, W K ^a   fBoyd, Stewart ^a   Aylett, Sarah E ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIQUITIN; CLONAZEPAM; DIAZEPAM; GENE PRODUCT; PARALDEHYDE; PHENOBARBITAL; PHENYTOIN; PROTEIN ALDH7A1; PYRIDOXINE; THIAMINE; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; CASE REPORT; COGNITIVE DEFECT; DISEASE SEVERITY; DRUG MEGADOSE; DRUG SUBSTITUTION; DRUG TREATMENT FAILURE; EARLY CHILDHOOD INTERVENTION; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; FEBRILE CONVULSION; GENE MUTATION; HUMAN; LEARNING DISORDER; LOADING DRUG DOSE; MALE; MEDICATION ERROR; MENTAL PERFORMANCE; NERVE CONDUCTION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSTNATAL CARE; PRENATAL CARE; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SEIZURE; SENSORY NEUROPATHY; TREATMENT DURATION;

ADMINISTRATION, ORAL; ADOLESCENT; ALDEHYDE DEHYDROGENASE; ANTICONVULSANTS; BRAIN; CHILD; CHILD, PRESCHOOL; CORPUS CALLOSUM; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG ADMINISTRATION SCHEDULE; DRUG RESISTANCE; DRUG THERAPY, COMBINATION; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; EPILEPSY, GENERALIZED; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFUSIONS, INTRAVENOUS; INTELLIGENCE; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUTATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; PREGNANCY; PYRIDOXINE;

EID: 33947574490     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2007.00300.x     Document Type: Article

References (19)

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