Forschung & Innovation
Publikationen
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
PMU Autor*in
Gerhard Kluger
Alle Autor*innen
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
Fachzeitschrift
EBIOMEDICINE
Kurzfassung
Keywords
BRAIN, MUTATIONS, PATIENT, CHANNELS, GENETICS, GENOTYPE-PHENOTYPE CORRELATIONS, ONSET EPILEPTIC ENCEPHALOPATHY, VOLTAGE SENSOR, EPILEPSIES, K(V)7.2