A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia
Through this report, we expand the knowledge about the disease presentation in patients with <i>CACNA1D</i> variants and show the novel variant's modulatory effects on Ca<sub>V</sub>1.3 gating.
Authors
- Ferenc Török (ORCID: https://orcid.org/0009-0006-8133-5778)
- Petra Bittigau (ORCID: https://orcid.org/0000-0002-6989-5223)
- M. Mahdi Motazacker (ORCID: https://orcid.org/0000-0002-2283-7405)
- Marjoleine F. Broekema (ORCID: https://orcid.org/0000-0002-1832-1262)
- Ute I. Scholl (ORCID: https://orcid.org/0000-0002-0309-8045)
- Arpad von Moers
- Nadine J. Ortner (ORCID: https://orcid.org/0000-0003-3882-3283)
- Markus Schuelke (ORCID: https://orcid.org/0000-0003-2824-3891)
- Jörg Striessnig (ORCID: https://orcid.org/0000-0002-9406-7120)
- Fabian Dannenberg (ORCID: https://orcid.org/0000-0001-6500-318X)
- Gabriel Stölting (ORCID: https://orcid.org/0000-0002-2339-0545)
- Angela M. Kaindl (ORCID: https://orcid.org/0000-0001-9454-206X)
- Jörn Lange
- Sylvia Wiegand
Institutions
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-09-06
- DOI
- https://doi.org/10.1212/nxg.0000000000200186
- Citations
- 9
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 2.10
Funders
- Deutsche Forschungsgemeinschaft
- Austrian Science Fund
- Universität Innsbruck
- Stiftung Charité
- H2020 Marie Skłodowska-Curie Actions