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Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures : review of 63 North American cases submitted to a patient registry

Author
BASURA, Gregory J1 ; HAGLAND, Shawn P2 ; WILTSE, Anna M3 ; GOSPE, Sidney M2 3 4
[1] School of Medicine, University of Washington, Seattle, WA, United States
[2] Seattle Children's Hospital Research Institute, Seattle, WA, United States
[3] Departments of Neurology and Pediatrics, University of California, Davis, CA, United States
[4] Departments of Neurology and Pediatrics, Center on Human Development and Disability, Center for Neurogenetics and Neurotherapeutics, University of Washington, Seattle, WA, United States
Source

European journal of pediatrics. 2009, Vol 168, Num 6, pp 697-704, 8 p ; ref : 39 ref

CODEN
EJPEDT
ISSN
0340-6199
Scientific domain
Genetics; Pediatrics
Publisher
Springer, Heidelberg
Publication country
Germany
Document type
Article
Language
English
Author keyword
ALDH7A1 Antiquitin Pipecolic acid Pyridoxine-dependent seizures Pyridoxine-responsive seizures α-aminoadipic semialdehyde
Keyword (fr)
Acide Article synthèse Conduite à tenir Convulsion Dérivé de l'acide pipécolique Epilepsie Forme clinique Homme Malade Pyridoxine Pédiatrie Registre Revue bibliographique Symptomatologie Amérique du Nord Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux Trouble neurologique Vitamine B Amérique
Keyword (en)
Acids Review Clinical management Convulsion Pipecolic acid derivatives Epilepsy Clinical form Human Patient Pyridoxine Pediatrics Register Bibliographic review Symptomatology North America Cerebral disorder Central nervous system disease Nervous system diseases Neurological disorder B-Vitamins America
Keyword (es)
Acido Artículo síntesis Actitud médica Convulsión Epilepsia Forma clínica Hombre Enfermo Piridoxina Pediatría Registro Revista bibliográfica Sintomatología America del norte Encéfalo patología Sistema nervosio central patología Sistema nervioso patología Trastorno neurológico Vitamina B America
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy

Discipline
Generalities in medical sciences Neurology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
21416482

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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