A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Nakashima, Mitsuko; Negishi, Yutaka; Hori, Ikumi; Hattori, Ayako; Saitoh, Shinji; Saitsu, Hirotomo

Nakashima, Mitsuko; Negishi, Yutaka; Hori, Ikumi; Hattori, Ayako; Saitoh, Shinji; Saitsu, Hirotomo.

Afiliação

Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Negishi Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Hori I; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Hattori A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Am J Med Genet A ; 179(4): 645-649, 2019 04.

Article em En | MEDLINE | ID: mdl-30680869

Assuntos

Proteínas Ativadoras de GTPase/genética; Homozigoto; Mutação; Espasmos Infantis/etiologia; Dissomia Uniparental/patologia; Exoma; Feminino; Humanos; Lactente; Prognóstico; Espasmos Infantis/patologia; Dissomia Uniparental/genética

Palavras-chave

TBC1D24; epileptic encephalopathy; exome sequencing; loss of the heterozygosity; uniparental isodisomy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Proteínas Ativadoras de GTPase / Dissomia Uniparental / Homozigoto / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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