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Neurology, ISSN 0028-3878, 07/2018, Volume 91, Issue 1, pp. e78 - e86
OBJECTIVETo evaluate the features and maturational changes in overall callosal shape in patients with pyridoxine-dependent epilepsy (PDE). METHODSMeasurements... 
SEIZURES | THERAPY | ANOMALIES | ARGININE SUPPLEMENTATION | VARIANCE | SPECTRUM | ALDH7A1 | DEFICIENCY | BRAIN | CLINICAL NEUROLOGY | FEATURES
Journal Article
Genetics, ISSN 0016-6731, 12/2017, Volume 207, Issue 4, p. 1501
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures,... 
aldh7a1 | zebrafish model | metabolic epilepsy | pyridoxine-dependent epilepsy | lysine metabolism
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 01/2017, Volume 19, Issue 1, pp. 73 - 76
Journal Article
Brain and Development, ISSN 0387-7604, 04/2018, Volume 40, Issue 4, pp. 348 - 352
Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually... 
Pyridoxine-dependent epilepsy | Hydrocephalus | Ventriculomegaly | ALDH7A1 | Antiquitin | SEIZURES | ALDH7Al | SPECTRUM | DEFICIENCY | CLINICAL NEUROLOGY
Journal Article
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2018, pp. 1 - 9
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite... 
PDE | Alpha aminoadipic semialdehyde | Pyridoxine dependent epilepsy | ALDH7A1 | Databases | Epilepsy | Encephalopathy | Cognitive ability | Pyridoxine | Genomes | Diagnosis | Mutation | Medical screening | Genotypes | Genetic screening
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 12/2010, Volume 51, Issue 12, pp. 2406 - 2411
PURPOSE: Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine. PDE can be... 
DIAGNOSIS | Electroencephalography | Pyridoxine | UMCG Approved | Antiquitin | PHOSPHATE | Neonatal seizures | SUGGESTIVE ELECTROCLINICAL PATTERN | GENE | ALDH7A1 gene mutations | MUTATIONS | ANTIQUITIN ALDH7A1 | EPIDEMIOLOGY
Journal Article
Pediatrics, ISSN 0031-4005, 2012, Volume 129, Issue 5, pp. E1368 - E1372
Journal Article
Journal Article
Biochemistry, ISSN 0006-2960, 09/2015, Volume 54, Issue 35, pp. 5513 - 5522
Journal Article