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Clinical Neurology and Neurosurgery, ISSN 0303-8467, 11/2018, Volume 174, pp. 134 - 136
•This is the first Spanish case of ANE with a c.1754->T mutation of the RANBP2-gene.•Early steroid therapy should be considered for management of ANE.•ANE1... 
RANBP2 | phenotype | familial | steroids | Acute necrotizing encephalopathy | SURGERY | INFECTION | CLINICAL NEUROLOGY | Encephalopathy | Genetic aspects | Medical genetics | Edema | Pediatrics | Immunization | Medical imaging | Laboratories | Pathogenesis | Families & family life | Infections | Family medical history | Metabolism | Fever | Hypotheses | Influenza | Gangrene | Mutation | Steroid hormones | Viral infections | Steroids
Journal Article
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
Anales de Pediatria, ISSN 1695-4033, 03/2018, Volume 88, Issue 3, pp. 174 - 175
Journal Article
Child's Nervous System, ISSN 0256-7040, 4/2016, Volume 32, Issue 4, pp. 763 - 763
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00381-016-3046-x 
Medicine & Public Health | Neurosciences | Neurosurgery
Journal Article
ANALES DE PEDIATRIA, ISSN 1695-4033, 03/2018, Volume 88, Issue 3, pp. 174 - 175
Journal Article
Enfermedades Infecciosas y Microbiologia Clinica, ISSN 0213-005X, 2016, Volume 35, Issue 6, pp. 388 - 389
Journal Article
Brain & development, 12/2017
Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually... 
Journal Article
Journal Article
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