Related Experiment Video
Updated: Jun 10, 2026

Laryngeal Mask Airway (LMA) Placement in a Neonatal Patient Simulator Using a Non-Inflatable Supraglottic Airway (SGA)
Published on: July 14, 2023
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder
L Lion-Francois1, C Mignot, S Vicart
1Hôpital Femme Mère Enfant, 59, boulevard Pinel, 69 677 Bron Cedex, France. laurence.francois@chu-lyon.fr
Background:
Myotonia is unusual in infants, and not well-known.
Methods:
We describe neonatal life-threatening features of myotonia caused by de novo mutations in the muscle sodium channel gene SCN4A.
Results:
Three male neonates initially displayed episodic laryngospasms, with face and limb myotonia appearing later. We found SCN4A de novo mutations in these neonates: p.Gly1306Glu in 2 unrelated cases and a novel mutation p.Ala799Ser in the third. Two patients survived their respiratory attacks and were efficiently treated by sodium channel blockers (mexiletine, carbamazepine) following diagnosis of myotonia.
Conclusion:
Severe neonatal episodic laryngospasm is a new phenotype caused by a sodium channelopathy, which can be alleviated by channel blockers.
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