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W1337 Abdominal Symptoms in Patients with Long Qt Syndrome and a “Gain of Function” Mutation in the Nav1.5 Sodium Channel

✍ Scribed by Braak, Breg; Klooker, Tamira K.; Scholvinck, Dirk; Hofman, Nynke; Wilde, Arthur; Boeckxstaens, Guy E.


Book ID
123031453
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
138 KB
Volume
134
Category
Article
ISSN
0016-5085

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Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a