High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

Abstract Background Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A. Treatment can be difficult due to side effects from therapies utilized conventionally for the management of myotonia and paramyotonia...

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Bibliographic Details
Main Authors: Vanessa Ogueri, Jessica Chong, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana Bharucha-Goebel, Christopher Spurney
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Journal of Medical Case Reports
Subjects:
Paramyotonia congenita
Severe neonatal episodic laryngospasm
Flecainide
Case report
Online Access:https://doi.org/10.1186/s13256-025-05164-8
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https://doi.org/10.1186/s13256-025-05164-8

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