Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Morikawa, Manami; Takano, Kyoko; Motobayashi, Mitsuo; Shiba, Naoko; Kosho, Tomoki; Nakazawa, Yozo; Inaba, Yuji

Morikawa, Manami; Takano, Kyoko; Motobayashi, Mitsuo; Shiba, Naoko; Kosho, Tomoki; Nakazawa, Yozo; Inaba, Yuji.

Afiliação

Morikawa M; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Takano K; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Motobayashi M; Division of Neonatology, Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan. Electronic address: s001072@shinshu-u.ac.jp.
Shiba N; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Nakazawa Y; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
Inaba Y; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

Brain Dev ; 39(9): 804-807, 2017 Oct.

Article em En | MEDLINE | ID: mdl-28551038

Assuntos

Proteínas de Transporte/genética; Mutação/genética; Espasmos Infantis/genética; Pré-Escolar; Deficiências do Desenvolvimento/complicações; Deficiências do Desenvolvimento/genética; Feminino; Humanos; Lactente; Deficiência Intelectual/complicações; Deficiência Intelectual/genética; Espasmos Infantis/complicações

Palavras-chave

Adrenocorticotropic hormone therapy; Beta-propeller protein-associated neurodegeneration; Infantile spasms; WDR45; West syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas de Transporte / Mutação Limite: Child, preschool / Female / Humans / Infant Idioma: En Revista: Brain Dev Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Japão

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