Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: SCN1A: 3693T>A; Ser1231Arg
Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.
Journal Of Neurophysiology
Schutte, Ryan J RJ; Schutte, Soleil S SS; Algara, Jacqueline J; Barragan, Eden V EV; Gilligan, Jeff J; Staber, Cynthia C; Savva, Yiannis A YA; Smith, Martin A MA; Reenan, Robert R; O'Dowd, Diane K DK