Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder. - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Neurology Année : 2010

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.

L. Lion-Francois
  • Fonction : Auteur
C. Mignot
  • Fonction : Auteur
S. Vicart
  • Fonction : Auteur
V. Manel
  • Fonction : Auteur
D. Sternberg
  • Fonction : Auteur
P. Landrieu
  • Fonction : Auteur
G. Lesca
  • Fonction : Auteur
E. Broussolle
S. Napuri
  • Fonction : Auteur
B. Fontaine
  • Fonction : Auteur

Résumé

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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Linguistique
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Dates et versions

hal-00655293 , version 1 (27-12-2011)

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L. Lion-Francois, C. Mignot, S. Vicart, V. Manel, D. Sternberg, et al.. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.. Neurology, 2010, 75 (7), pp.641-5. ⟨10.1212/WNL.0b013e3181ed9e96⟩. ⟨hal-00655293⟩
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