Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.

Goto, Ayako; Ishii, Atsushi; Shibata, Mami; Ihara, Yukiko; Cooper, Edward C; Hirose, Shinichi

Goto, Ayako; Ishii, Atsushi; Shibata, Mami; Ihara, Yukiko; Cooper, Edward C; Hirose, Shinichi.

Afiliação

Goto A; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Ishii A; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Shibata M; Central Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Japan.
Ihara Y; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.
Cooper EC; Department of Neurology, Baylor College of Medicine, Houston, Texas.
Hirose S; Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

Epilepsia ; 60(9): 1870-1880, 2019 09.

Article em En | MEDLINE | ID: mdl-31418850

Assuntos

Encefalopatias/genética; Epilepsia Neonatal Benigna/genética; Canal de Potássio KCNQ2/genética; Espasmos Infantis/genética; Feminino; Humanos; Lactente; Recém-Nascido; Masculino; Mutação; Mutação de Sentido Incorreto; Linhagem; Fenótipo

Palavras-chave

KCNQ3; Kv7.2; genotype; infant; self-limiting epilepsy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Encefalopatias / Epilepsia Neonatal Benigna / Canal de Potássio KCNQ2 Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Epilepsia Ano de publicação: 2019 Tipo de documento: Article

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