De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
智力障碍和癫痫患者中 SCN8A 的新生功能获得突变和功能丧失突变
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2014-102813
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn C J Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G Yntema, René J M Bindels, Miriam H Meisler, Erik-Jan Kamsteeg
