Article
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.
Neurology - 17 Aug 2010
Lion-Francois L, Mignot C, Vicart S, Manel V, Sternberg D, Landrieu P, Lesca G, Broussolle E, Billette de Villemeur T, Napuri S, des Portes V, Fontaine B
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.