Table of contents

Genotype-phenotype correlations

• Original article:

  De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

  (27 February, 2015)

  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
• Original article:

  A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life

  (4 March, 2015)

  Chiara Calore, Marzia De Bortoli, Chiara Romualdi, Alessandra Lorenzon, Annalisa Angelini, Cristina Basso, Gaetano Thiene, Sabino Iliceto, Alessandra Rampazzo, Paola Melacini