Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy.

Yang, Le; Zhao, Siyu; Ma, Nan; Liu, Liang; Li, Dongjing; Li, Xia; Wang, Zhijing; Song, Xixiao; Wang, Yan; Wang, Dong

Yang, Le; Zhao, Siyu; Ma, Nan; Liu, Liang; Li, Dongjing; Li, Xia; Wang, Zhijing; Song, Xixiao; Wang, Yan; Wang, Dong.

Afiliação

Yang L; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Zhao S; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Ma N; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Liu L; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Li D; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Li X; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Wang Z; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Song X; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Wang Y; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.
Wang D; Department of Pediatric neurology, Xi'an Children's Hospital, Xi'an, China.

Am J Med Genet A ; 188(1): 210-215, 2022 01.

Article em En | MEDLINE | ID: mdl-34617658

Assuntos

Epilepsia; Proteínas de Neoplasias; Espasmos Infantis; Processamento Alternativo; Epilepsia/genética; Humanos; Lactente; Proteínas de Neoplasias/genética; Isoformas de Proteínas/genética; Splicing de RNA/genética; Espasmos Infantis/genética; Sequenciamento do Exoma/métodos

Palavras-chave

DIP2C; focal infantile epilepsy; splicing variation; whole-exome sequencing

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Epilepsia / Proteínas de Neoplasias Tipo de estudo: Prognostic_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google