Evidence map›Paper›PMID 40361141›Full record

ArticleJournal of medical case reports2025

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

Vanessa Ogueri, Jessica Chong, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana Bharucha-Goebel, Christopher Spurney

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In one paragraph

Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Vanessa OgueriDivision of Cardiology, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA.
Jessica ChongDivision of Neurology, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA.
Melissa FlemingDivision of Pediatric Rehabilitation Medicine, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA.
Kara SimpsonRare Disease Institute, Genetics and Metabolism, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA.
Elizabeth SherwinDivision of Cardiology, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA.
Diana Bharucha-GoebelDivision of Neurology, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA.
Christopher SpurneyDivision of Cardiology, Children's National Hospital, 111 Michigan Avenue, NW, Washington, DC, 20010, USA. cspurney@childrensnational.org.ORCID http://orcid.org/0000-0003-2493-5735

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSevere 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 congenita. CASE PRESENTATION: We report on two female siblings of Irish, Scandinavian, and German ethnicity aged 7 and 3 years with severe neonatal episodic laryngospasm and paramyotonia congenita due to a paternally inherited heterozygous pathogenic variant of the SCN4A gene and the use of high-dose flecainide therapy for symptomatic management. Interestingly, one of the two siblings has a coexisting separate maternally inherited and pathogenic CLCN1 variant that may further impact phenotype. High-dose flecainide 220-250 mg/m

conclusionThis report supports the use of high-dose flecainide in combination with standard therapies in pediatric patients with SCN4A mutations to modulate acute symptoms and provides suggested dosing with an acute and long-term monitoring protocol.

Indexed as

FlecainideLaryngismusMyotonic DisordersNAV1.4 Voltage-Gated Sodium ChannelChildChild, PreschoolFemaleHumansMutationTreatment OutcomeVoltage-Gated Sodium Channel BlockersFlecainideNAV1.4 Voltage-Gated Sodium ChannelSCN4A protein, humanVoltage-Gated Sodium Channel BlockersCase reportFlecainideParamyotonia congenitaSevere neonatal episodic laryngospasm

Identifiers

PMID40361141
PMCPMC12070567

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.