Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.

Jiao, Xianru; Xue, Jiao; Gong, Pan; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian

Jiao, Xianru; Xue, Jiao; Gong, Pan; Wu, Ye; Zhang, Yuehua; Jiang, Yuwu; Yang, Zhixian.

Afiliación

Jiao X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Xue J; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Gong P; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Wu Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Yang Z; Department of Pediatrics, Peking University First Hospital, Beijing, China.

Dev Med Child Neurol ; 62(3): 315-321, 2020 03.

Article en En | MEDLINE | ID: mdl-31737911

Asunto(s)

Aldehído Deshidrogenasa/genética; Epilepsia/diagnóstico; Proteínas/genética; Encéfalo/fisiopatología; Niño; Preescolar; China; Análisis Mutacional de ADN; Electroencefalografía; Epilepsia/genética; Epilepsia/fisiopatología; Femenino; Humanos; Lactante; Masculino; Mutación; Estudios Retrospectivos

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas / Aldehído Deshidrogenasa / Epilepsia Tipo de estudio: Etiology_studies / Observational_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Dev Med Child Neurol Año: 2020 Tipo del documento: Article País de afiliación: China

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