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

Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., … Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130
Authors:
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
Affiliated Authors:
Tristan Sands
Columbia Affiliation:
Subjects:
Molecular Mechanisms of Ion Channels Regulation (OpenAlex Topic)
Molecular Mechanisms of Cardiac Arrhythmias (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Autistic Disorder (MeSH)
Epilepsy (MeSH)
Infant, Newborn, Diseases (MeSH)
Language Development Disorders (MeSH)
Author Keywords:
kcnq2
gain-of-function
amitriptyline
autism
developmental and epileptic encephalopathy
elink
Publication Type:
Article
Unique ID:
10.1016/j.ebiom.2022.104130
PMID:
35780567
DOI:
10.1016/j.ebiom.2022.104130
Journal:
EBioMedicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record
View Web of Science Record

Record Created: