A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan.

Lee, Inn-Chi; Yang, Jiann-Jou; Li, Shuan-Yow

Lee, Inn-Chi; Yang, Jiann-Jou; Li, Shuan-Yow.

Afiliação

Lee IC; Division of Pediatric Neurology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan. Electronic address: y610@mercury.csmu.edu.tw.
Yang JJ; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan; Genetics Laboratory and Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan.
Li SY; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan; Genetics Laboratory and Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan. Electronic address: i0000528@ms12.hinet.net.

J Formos Med Assoc ; 116(9): 711-719, 2017 Sep.

Article em En | MEDLINE | ID: mdl-28038823

Assuntos

Epilepsia Neonatal Benigna/genética; Canal de Potássio KCNQ2/genética; Mutação; Sono/fisiologia; Adolescente; Criança; Eletroencefalografia; Epilepsia Neonatal Benigna/fisiopatologia; Células HEK293; Humanos; Lactente

Palavras-chave

E515D mutation; KCNQ2; benign familial neonatal seizures; continuous spikes and waves during slow-wave sleep

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sono / Epilepsia Neonatal Benigna / Canal de Potássio KCNQ2 / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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