Research & Innovation
Publications
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
PMU Author
Gerhard Kluger
All Authors
F. Miceli, C. Millevert, MV Soldovieri, I. Mosca, P. Ambrosino, L. Carotenuto, D. Schrader, HK Lee, J. Riviello, W. Hong, S. Risen, L. Emrick, H. Amin, D. Ville, P. Edery, J. de Bellescize, V. Michaud, J. Van-Gils, C. Goizet, MH Willemsen, T. Kleefstra, RS Moller, A. Bayat, O. Devinsky, T. Sands, GC Korenke, Gerhard Kluger, HC Mefford, E. Brilstra, G. Lesca, M. Milh, EC Cooper, M. Taglialatela, S. Weckhuysen
Journal association
EBIOMEDICINE
Abstract
Keywords
BRAIN, MUTATIONS, PATIENT, CHANNELS, GENETICS, GENOTYPE-PHENOTYPE CORRELATIONS, ONSET EPILEPTIC ENCEPHALOPATHY, VOLTAGE SENSOR, EPILEPSIES, K(V)7.2