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De novo variants in KCNJ3 are associated with early-onset epilepsy.
Li, Juan; Mei, Shiyue; Mao, Xiao; Wan, Lily; Wang, Hua; Xiao, Bo; Song, Yanmin; Gu, Weiyue; Liu, Yan; Long, Lili.
Affiliation
  • Li J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Mei S; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Mao X; Clinical Research Center for Epileptic Disease of Hunan Province, Central South University, Changsha, Hunan, China.
  • Wan L; Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan, China.
  • Wang H; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
  • Xiao B; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.
  • Song Y; Department of Anatomy & Neurobiology, Central South University Xiangya School of Medicine, Changsha, Hunan, China.
  • Gu W; Department of Medical Genetics, Hunan Children's Hospital, Changsha, Hunan, China.
  • Liu Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  • Long L; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
J Med Genet ; 61(4): 319-324, 2024 Mar 21.
Article de En | MEDLINE | ID: mdl-37963718

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Mutation faux-sens / Épilepsie Limites: Humans Langue: En Journal: J Med Genet Année: 2024 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Mutation faux-sens / Épilepsie Limites: Humans Langue: En Journal: J Med Genet Année: 2024 Type de document: Article Pays d'affiliation: Chine Pays de publication: Royaume-Uni