Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.

Takeda, Kanako; Miyamoto, Yusaku; Yamamoto, Hisako; Ishii, Atsushi; Hirose, Shinichi; Yamamoto, Hitoshi

Takeda, Kanako; Miyamoto, Yusaku; Yamamoto, Hisako; Ishii, Atsushi; Hirose, Shinichi; Yamamoto, Hitoshi.

Afiliação

Takeda K; Kawasaki Municipal Tama Hospital, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Japan. Electronic address: k2takeda@marianna-u.ac.jp.
Miyamoto Y; Kawasaki Municipal Tama Hospital, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Japan.
Yamamoto H; Kawasaki Municipal Tama Hospital, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Japan.
Ishii A; Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
Hirose S; Department of Pediatrics, School of Medicine, Fukuoka University, Japan.
Yamamoto H; Department of Pediatrics, St. Marianna University School of Medicine, Japan.

Brain Dev ; 42(1): 73-76, 2020 Jan.

Article em En | MEDLINE | ID: mdl-31492455

Assuntos

Epilepsias Mioclônicas/genética; Síndromes Epilépticas/complicações; Espasmos Infantis/complicações; Pré-Escolar; Feminino; Humanos; Lactente; Recém-Nascido; Mutação; Proteínas Serina-Treonina Quinases/genética

Palavras-chave

CDKL5 deficiency; CDKL5 gene; Early myoclonic encephalopathy; Epileptic encephalopathy; Refractory seizures

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Epilepsias Mioclônicas / Síndromes Epilépticas Limite: Child, preschool / Female / Humans / Infant / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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