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Neurology 2003;60:340-342
© 2003 American Academy of Neurology
Brief Communications

Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization

Y. Péréon, MD PhD, G. Lande, MD, S. Demolombe, PhD, S. Nguyen The Tich, MD, D. Sternberg, MD, H. Le Marec, MD PhD and A. David, MD

From the Laboratoire d’Explorations Fonctionnelles (Drs. Péréon and Nguyen The Tich), Hôtel-Dieu, Nantes; INSERM U533 (Drs. Péréon, Lande, Demolombe, and Le Marec), Faculté de Médecine, Nantes; Service de Biochimie B (Dr. Sternberg), Hôpital de la Salpêtrière, Paris; and Service de Génétique Clinique (Dr. David), Hôpital de la Mère et de l’Enfant, Nantes, France.

Address correspondence and reprint requests to Dr. Yann Péréon, Laboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, University Hospital, F-44093 Nantes cedex, France; e-mail: Yann.Pereon{at}nantes.inserm.fr

Paramyotonia congenita (PC) is linked to mutations of the skeletal muscle voltage-gated sodium channel {alpha}-subunit gene SCN4A. The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram. They demonstrate that the SCN4A {alpha}-subunit gene is expressed in normal human heart. Cardiac consequences of mutations of the SCN4A gene may be insignificant in standard conditions, but critical if patients with PC are treated with drugs inducing QT prolongation.




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