Clinical characteristics and gene analysis of SYNGAP1-related epilepsy in children

Objective: To summarize the clinical characteristics of SYNGAP1-related epilepsy in children. Methods: Data of 13 patients with SYNGAP1 gene variants diagnosed with epilepsy at Department of Neurology, Beijing Children's Hospital were collected retrospectively from March 2017 to October 2020 an...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 59(2021), 12 vom: 02. Dez., Seite 1059-1064
1. Verfasser: Tian, X J (VerfasserIn)
Weitere Verfasser: Fang, F, Ding, C H, Ren, X T, Wang, X, Wang, X F, Lyu, J L, Jin, H, Han, T L, Deng, J
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2021
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article SYNGAP1 protein, human ras GTPase-Activating Proteins