Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
Sarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L Carroll, Sabine Gronborg, Yong-hui Jiang, Nishtha Joshi, Megan Kelly, David A Koolen, Mohamad A Mikati, Kristen Park, Phillip L Pearl, Ingrid E Scheffer, Rebecca C Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C Cooper, Maria Roberta Cilio
Epilepsia | WILEY | Published : 2017
Awarded by University of Arkansas for Medical Sciences Center for Translational Neuroscience (National Institutes of Health)
Awarded by Telethon
Awarded by National Institute of Neurological Disorders and Stroke
The authors thank the wonderful families and the children for teaching us about KCNQ2. We also thank Dr. David Goldstein (Columbia University) and Dr. Slave Petrovski (University of Melbourne) for performing and interpreting next-generation and Sanger sequencing data (Patient H) and Dr. E.J. Kamsteeg (Radboud University Medical Center) for next-generation and Sanger sequence data (patient I). The Rational Intervention of KCNQ2 Epileptic Encephalopathy (RIKEE) registry has been supported by a Research Infrastructure grant from the American Epilepsy Society and the Epilepsy Foundation, by the Jack Pribaz Foundation, and by Baylor College of Medicine. Dr. Mulkey received support from the University of Arkansas for Medical Sciences Center for Translational Neuroscience (National Institutes of Health P30 GM110702). Dr. Taglialatela received support from Telethon (GGP15113). Dr. Cooper and Ms. Joshi were supported in part by the National Institute of Neurological Disorders and Stroke R01 NS49119.