Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

Law, Chun-Yiu; Chang, Sharon Tzu-Lun; Cho, Sun Young; Yau, Eric Kin-Cheong; Ng, Grace Sui-Fun; Fong, Nai-Chung; Lam, Ching-Wan

Law, Chun-Yiu; Chang, Sharon Tzu-Lun; Cho, Sun Young; Yau, Eric Kin-Cheong; Ng, Grace Sui-Fun; Fong, Nai-Chung; Lam, Ching-Wan.

Afiliación

Law CY; Department of Pathology, The University of Hong Kong, Hong Kong, China.
Chang ST; Department of Pathology, The University of Hong Kong, Hong Kong, China.
Cho SY; Department of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.
Yau EK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Ng GS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Fong NC; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Lam CW; Department of Pathology, The University of Hong Kong, Hong Kong, China. Electronic address: ching-wanlam@pathology.hku.hk.

Clin Chim Acta ; 451(Pt B): 292-6, 2015 Dec 07.

Article en En | MEDLINE | ID: mdl-26485252

Asunto(s)

Epilepsia/genética; Exoma/genética; Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética; Mutación Missense/genética; Análisis de Secuencia de ADN; Edad de Inicio; Femenino; Humanos; Lactante

Palabras clave

Clinical whole-exome sequencing; Early infantile epileptic encephalopathy; GNAO1

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Subunidades alfa de la Proteína de Unión al GTP Gi-Go / Mutación Missense / Epilepsia / Exoma Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: Clin Chim Acta Año: 2015 Tipo del documento: Article País de afiliación: China

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