De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.

Neuromuscul Disord 2019 11 13;29(11):907-909. Epub 2019 Sep 13.

Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Neuropediatrics, University Hospital Bonn, University of Bonn, Bonn, Germany. Electronic address:

Variants of the skeletal muscle sodium channel gene SCN4A are associated with different neuromuscular disorders including sodium channel myotonia. Here, we report an infant with a de novo variant in SCN4A presenting with neonatal onset of severe muscle stiffness with involvement of facial and eyelid muscles, and life-threatening events with respiratory failure due to severe apnoea and thorax rigidity. The boy dramatically improved in both respiratory and motor function under carbamazepine therapy.

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http://dx.doi.org/10.1016/j.nmd.2019.09.001DOI Listing
November 2019

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