intelectual disability

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn CJ Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G Yntema, René JM Bindels, Miriam H Meisler, Erik-Jan Kamsteeg

Journal of Medical Genetics May 2015, 52 (5) 330-337; DOI: 10.1136/jmedgenet-2014-102813

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intelectual disability