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Items: 4

Select item 90882251.

Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

Tiantian Xiao, Xiang Chen, Yan Xu, Huiyao Chen, Xinran Dong, Lin Yang, Bingbing Wu, Liping Chen, Long Li, Deyi Zhuang, Dongmei Chen, Yuanfeng Zhou, Huijun Wang, Wenhao Zhou

Front Mol Neurosci. 2022; 15: 809810. Published online 2022 Apr 26. doi: 10.3389/fnmol.2022.809810

PMCID:: PMC9088225

Abstract Article PDF–510K

Select item 85550782.

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder

Yan Xu, Ya-lan Dou, Xiang Chen, Xin-ran Dong, Xin-hua Wang, Bing-bing Wu, Guo-qiang Cheng, Yuan-feng Zhou

BMC Pediatr. 2021; 21: 477. Published online 2021 Oct 28. doi: 10.1186/s12887-021-02946-z

PMCID:: PMC8555078

Abstract Article PDF–1.6M

Select item 92543403.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen

eBioMedicine. 2022 Jul; 81: 104130. Published online 2022 Jun 30. doi: 10.1016/j.ebiom.2022.104130