Anxiety and dysautonomia symptoms in patients with a Na V 1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
Autor: | de Cássia Collaço R; Molecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, University of Ghent, Ghent, Belgium., Lammens M; Molecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, University of Ghent, Ghent, Belgium., Blevins C; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Rodgers K; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Gurau A; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Yamauchi S; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Kim C; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Forrester J; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Liu E; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Ha J; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Mei Y; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Boehm C; McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Wohler E; McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Sobreira N; McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Rowe PC; Department of Pediatrics, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Valle D; McKusick-Nathans Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA., Brock MV; Department of Surgery, School of Medicine, Johns Hopkins University, Baltimore, MD, USA. mabrock@jhmi.edu., Bosmans F; Molecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, University of Ghent, Ghent, Belgium. frank.bosmans@ugent.be. |
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Jazyk: | angličtina |
Zdroj: | Clinical autonomic research : official journal of the Clinical Autonomic Research Society [Clin Auton Res] 2024 Feb; Vol. 34 (1), pp. 191-201. Date of Electronic Publication: 2023 Dec 08. |
DOI: | 10.1007/s10286-023-01004-1 |
Abstrakt: | Purpose: Guanfacine is an α Methods: We used whole-exome sequencing to identify mutations in patients with shared generalized anxiety and dysautonomia symptoms. Guanfacine-induced changes in the function of voltage-gated Na + channels were investigated using voltage-clamp electrophysiology. Results: Whole-exome sequencing uncovered the p.I739V mutation in SCN9A in the proband of two nonrelated families. Moreover, guanfacine inhibited ionic currents evoked by wild-type and mutant Na Conclusion: Our study provides further evidence for a possible pathophysiological role of Na (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.) |
Databáze: | MEDLINE |
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