Gain-of-function variants in the ion channel gene
Publication/Presentation Date
1-17-2023
Abstract
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in
Volume
12
ISSN
2050-084X
Published In/Presented At
Burglen, L., Van Hoeymissen, E., Qebibo, L., Barth, M., Belnap, N., Boschann, F., Depienne, C., De Clercq, K., Douglas, A. G. L., Fitzgerald, M. P., Foulds, N., Garel, C., Helbig, I., Held, K., Horn, D., Janssen, A., Kaindl, A. M., Narayanan, V., Prager, C., Rupin-Mas, M., … Vriens, J. (2023). Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders. eLife, 12, e81032. https://doi.org/10.7554/eLife.81032
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
36648066
Department(s)
Department of Pediatrics
Document Type
Article
COinS