KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
Titel:
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
Auteur:
Miceli, Francesco Millevert, Charissa Soldovieri, Maria Virginia Mosca, Ilaria Ambrosino, Paolo Carotenuto, Lidia Schrader, Dewi Lee, Hyun Kyung Riviello, James Hong, William Risen, Sarah Emrick, Lisa Amin, Hitha Ville, Dorothée Edery, Patrick de Bellescize, Julitta Michaud, Vincent Van-Gils, Julien Goizet, Cyril Willemsen, Marjolein H. Kleefstra, Tjitske Møller, Rikke S Bayat, Allan Devinsky, Orrin Sands, Tristan Korenke, G. Christoph Kluger, Gerhard Mefford, Heather C. Brilstra, Eva Lesca, Gaetan Milh, Mathieu Cooper, Edward C. Taglialatela, Maurizio Weckhuysen, Sarah