Article
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Molecular autism - 1 Jan 2020
Hofer Nadja T, Tuluc Petronel, Ortner Nadine J, Nikonishyna Yuliia V, Fernándes-Quintero Monica L, Liedl Klaus R, Flucher Bernhard E, Cox Helen, Striessnig Jörg
Abstract excerpt
Background: There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca2+-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to...
Topics
- Calcium Channels, L-Type
- Calcium Signaling
- Cell Line
- Humans
- Models, Molecular
- Mutation
- Neurodevelopmental Disorders