KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
KCNQ2 R144 变异通过功能获得机制导致神经发育障碍,伴有语言障碍和自闭症特征,但不会引起新生儿癫痫发作。
期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2022.104130
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