SCN5A

(redirected from LQT3)

SCN5A

A gene on chromosome 3p21 that encodes an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel alpha subunit, which is expressed primarily in cardiac myocytes and is responsible beginning the action potential as seen on an ECG/EKG.
 
Molecular pathology
SCN5A mutations are long QT syndrome type 3.
References in periodicals archive ?
LQT3 genotype experience events during sleep or at rest.
Genetic testing subsequently revealed a LQT3 genotype with a mutation in the SCN5A gene.
The majority of mutations have been identified in LQT1 (40%-55%), LQT2 (35%-45%), and LQT3 (2%-8%), which represent the genes KCNQ1, KCNH2, and SCN5A, respectively.
Patients with LQT3 mutations are at risk of having cardiac events during nonemotional states such as sleep or rest.
Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome.
Eighteen unrelated Japanese individuals participated in this study: 10 patients with Brugada syndrome, 1 with IVF without ST segment elevation in the right precordial electrocardiogram leads, 1 with LQT3, and 6 healthy individuals without family histories of syncope or sudden death.
2+]-cyclen-PAGE showed another abnormality in exon 20 of IVF and LQT3 patients (lanes 11 and 12 in Fig.
22-25] This was confirmed when Jiang et al[26] mapped the LQT2 and LQT3 genes to chromosome 7q35-36 and to chromosome 3p21-24, respectively.
n this study, risk was highest for those who experienced their first cardiac event at a young age (7 years or younger), those with a QTc of more than 500 milliseconds, and those with an LQT2 or LQT3 genotype.
001) shortened the QT interval of patients with a hereditary form of long QT syndrome called LQT3, which is caused by a genetic mutation in the late sodium channel and can be associated with heart rhythm problems, including sudden death.
For example, patients with a mutation in the LQT1 gene have the highest risk of having a cardiac event by the age of 40 and patients with a mutation in LQT3 have the lowest (1).