Severe neonatal episodic laryngospasm due to de novo SCN4A mutations A new treatable disorder
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations A new treatable disorder
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DOI：
10.1212/wnl.0b013e3181ed9e96
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发表时间：
2010-08-17
期刊：
影响因子：
9.9
通讯作者：
Fontaine, B.
中科院分区：
文献类型：
--
作者：
Lion-Francois, L.;Mignot, C.;Fontaine, B.
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. Neurology (R) 2010; 75: 641-645
