Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

Tso, Winnie W Y; Kwong, Anna K Y; Fung, Cheuk Wing; Wong, Virginia C N

Tso, Winnie W Y; Kwong, Anna K Y; Fung, Cheuk Wing; Wong, Virginia C N.

Afiliação

Tso WW; Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
Kwong AK; Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
Fung CW; Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
Wong VC; Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong. Electronic address: vcnwong@hku.hk.

Pediatr Neurol ; 50(2): 177-80, 2014 Feb.

Article em En | MEDLINE | ID: mdl-24315539

Assuntos

Aldeído Desidrogenase/genética; Anticonvulsivantes/uso terapêutico; Epilepsia/tratamento farmacológico; Leucovorina/uso terapêutico; Proteínas Munc18/genética; Espasmos Infantis/tratamento farmacológico; Espasmos Infantis/genética; Encéfalo/efeitos dos fármacos; Encéfalo/patologia; Encéfalo/fisiopatologia; Diagnóstico Diferencial; Eletroencefalografia; Epilepsia/diagnóstico; Epilepsia/genética; Éxons; Feminino; Humanos; Recém-Nascido; Imageamento por Ressonância Magnética; Mutação de Sentido Incorreto; Espasmos Infantis/diagnóstico; Resultado do Tratamento

Palavras-chave

Ohtahara syndrome; STXBP1 mutations; folinic acid responsive epilepsy; seizures

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Leucovorina / Aldeído Desidrogenase / Epilepsia / Proteínas Munc18 / Anticonvulsivantes Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Newborn Idioma: En Revista: Pediatr Neurol Ano de publicação: 2014 Tipo de documento: Article

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