Journal article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H
SB Mulkey, B Ben-Zeev, J Nicolai, JL Carroll, S Grønborg, YH Jiang, N Joshi, M Kelly, DA Koolen, MA Mikati, K Park, PL Pearl, IE Scheffer, RC Spillmann, M Taglialatela, S Vieker, S Weckhuysen, EC Cooper, MR Cilio
Epilepsia | WILEY | Published : 2017
DOI: 10.1111/epi.13676
Abstract
Objective: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. Methods: Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)–approved KCNQ2 patient registry and database. We reviewed medical records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course. Results: Nine patients had encephalopathy from birth and presented with prominent startle-like myoclonus, which c..
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Awarded by National Institutes of Health
Funding Acknowledgements
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.