Publication: Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Gestores bibliográficos
Compartir
item.contributor.advisor
ORCID:
Journal Title
Journal ISSN
Volume Title
Publisher
item.page.isbn
item.page.issn
item.page.issne
item.page.doiurl
item.page.extent
item.page.accessRights
Acceso abierto
item.page.other
item.page.references
Abstract
Clinically identified genetic variants in ion channels can be benign or cause disease by increasing or decreasing the protein function. As a consequence, therapeutic decision-making is challenging wit...
Description
item.page.coverage.spatial
item.page.sponsorship
Citation
Brünger T, Pérez-Palma E, Montanucci L, Nothnagel M, Møller RS, Schorge S, Zuberi S, Symonds J, Lemke JR, Brunklaus A, Traynelis SF, May P, Lal D. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain. 2023 Mar 1;146(3):923-934. doi: 10.1093/brain/awac305
Keywords
item.page.dc.rights
item.page.dc.rights.url
Estadísticas de uso
1 0,8 0,5 0,3 0
Agosto 2025Septiembre 2025Octubre 2025Noviembre 2025Diciembre 2025Enero 2026Febrero 2026