Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

Zhao, Xuechao; Ning, Haofeng; Wang, Yanhong; Zhao, Ganye; Mei, Shiyue; Liu, Ning; Wang, Conghui; Cai, Aojie; Wei, Erhu; Kong, Xiangdong

Zhao, Xuechao; Ning, Haofeng; Wang, Yanhong; Zhao, Ganye; Mei, Shiyue; Liu, Ning; Wang, Conghui; Cai, Aojie; Wei, Erhu; Kong, Xiangdong.

Afiliação

Zhao X; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Ning H; Department of Medical Genetics and Antenatal Diagnosis, Luoyang Maternal and Child Health Care Hospital, Luoyang, 471000, Henan, China.
Wang Y; Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated To Zhengzhou University, Zhengzhou Children's Hospital, No-33, Longhu Waihuan East road, Zhengzhou, 450018, Henan, China.
Zhao G; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Mei S; Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated To Zhengzhou University, Zhengzhou Children's Hospital, No-33, Longhu Waihuan East road, Zhengzhou, 450018, Henan, China.
Liu N; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Wang C; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Cai A; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Wei E; Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Kong X; The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China. kxd1968@163.com.

Neurol Sci ; 43(7): 4439-4451, 2022 Jul.

Article em En | MEDLINE | ID: mdl-35217970

Assuntos

Epilepsia; Testes Genéticos; Povo Asiático/genética; Pré-Escolar; China; Epilepsia/diagnóstico; Epilepsia/genética; Feminino; Humanos; Lactente; Recém-Nascido; Gravidez; Sequenciamento do Exoma

Palavras-chave

De novo; Genetic analysis; Novel variants; Pediatric epilepsy; Whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Epilepsia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Newborn / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Neurol Sci Ano de publicação: 2022 Tipo de documento: Article

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