Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD

Autor: Poliquin, Sarah, Hughes, Inna, Shen, Wangzhen, Mermer, Felicia, Wang, Juexin, Mack, Taralynn, Xu, Dong, Kang, Jing-Qiong
Zdroj: In Experimental Neurology August 2021 342
Databáze: ScienceDirect