A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia
Year: 2024
Type: article
Abstract: Background and Objectives: mutation but different disease severity. Methods: The clinical data of the study patients were collected. After molecular analysis and cloning by site-directed mutagenesis, patch-clamp recordings of transfected tsA201 cells were conducted in whole-cell configuration. The functional effects of wild-type and mutated channels were analyzed. Results: channel blocker isradipine in vitro, no beneficial effects of isradipine or nifedipine treatment were observed in the index case. Discussion: 1.3 gating.
Source: Neurology Genetics
Institutions: DRK Kliniken Berlin, Charité - Universitätsmedizin Berlin
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W4402289083