Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children.

Lee, Hsiu-Fen; Chi, Ching-Shiang; Tsai, Chi-Ren

Lee, Hsiu-Fen; Chi, Ching-Shiang; Tsai, Chi-Ren.

Afiliação

Lee HF; Division of Pediatric Neurology, Children's Medical Center, Taichung Veterans General Hospital, 1650, Taiwan Boulevard Sec. 4, Taichung 407, Taiwan; School of Medicine, Chung Shan Medical University, 110, Sec. 1, Jianguo N. Rd., Taichung 402, Taiwan; Division of Nursing, Jen-Teh Junior College of Medicine, Nursing and Management, 79-9, Sha-Luen Hu Xi-Zhou Li Hou-Loung Town, Miaoli 356, Taiwan. Electronic address: leehf@hotmail.com.tw.
Chi CS; Division of Pediatric Neurology, Department of Pediatrics, Tungs' Taichung Metroharbor Hospital, 699, Taiwan Boulevard Sec. 8, Wuchi, Taichung 435, Taiwan; School of Medicine, Chung Shan Medical University, 110, Sec. 1, Jianguo N. Rd., Taichung 402, Taiwan; College of Life Sciences, National Chung Hsing University, 250, Kuo Kuang Rd., Taichung 402, Taiwan; Division of Nursing, Jen-Teh Junior College of Medicine, Nursing and Management, 79-9, Sha-Luen Hu Xi-Zhou Li Hou-Loung Town, Miaoli 356, Tai
Tsai CR; Division of Pediatric Neurology, Children's Medical Center, Taichung Veterans General Hospital, 1650, Taiwan Boulevard Sec. 4, Taichung 407, Taiwan; Institute of Molecular Biology, National Chung Hsing University, 250, Kuo Kuang Rd., Taichung 402, Taiwan. Electronic address: n20248@vghtc.gov.tw.

Brain Dev ; 42(5): 393-401, 2020 May.

Article em En | MEDLINE | ID: mdl-32173089

Assuntos

Aldeído Desidrogenase/genética; Epilepsia/diagnóstico; Epilepsia/genética; Epilepsia/fisiopatologia; Adolescente; Povo Asiático/genética; Pré-Escolar; Diagnóstico Tardio; Feminino; Humanos; Lactente; Masculino; Mutação; Fenótipo; Taiwan

Palavras-chave

ALDH7A1 gene; Atypical phenotype; Early onset epileptic encephalopathy; Pyridoxine-dependent epilepsy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aldeído Desidrogenase / Epilepsia Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Brain Dev Ano de publicação: 2020 Tipo de documento: Article

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