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Article

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

Pediatrics - 1 Nov 2014

Singh Rahul R, Tan S Veronica, Hanna Michael G, Robb Stephanie A, Clarke Antonia, Jungbluth Heinz

Abstract excerpt

Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying genetic conditions are rarely considered. Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide...

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PMID: 25311598
DOI: 10.1542/peds.2013-3727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25311598-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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