mutations in NaV1.5 (see paragraph genetics). SCN5A is the gene that encodes the cardiac sodium channel NaV1.5. SCN5A is a highly conserved gene located on human...
25 KB (2,761 words) - 09:47, 21 September 2024
genetic mutation or certain medications. The most commonly involved gene is SCN5A which encodes the cardiac sodium channel. Diagnosis is typically by electrocardiogram...
54 KB (5,882 words) - 21:14, 18 August 2024
Romano–Ward syndrome is caused by variants in the SCN5A gene located on chromosome 3p22–24. SCN5A encodes the alpha subunit of the cardiac sodium channel...
64 KB (6,615 words) - 10:17, 11 August 2024
Romano–Ward syndrome is caused by variants in the SCN5A gene located on chromosome 3p21-24. SCN5A encodes the alpha subunit of the cardiac sodium channel...
28 KB (2,823 words) - 11:02, 11 August 2024
Nav1.1 through Nav1.9. The gene names are referred to as SCN1A through SCN5A, then SCN8A through SCN11A. The "tenth member", Nax, does not act in a voltage-gated...
51 KB (5,600 words) - 16:44, 18 September 2024
Scientists have also associated this syndrome with a mutation of gene SCN5A that affects the function of the heart. A 2011 autopsy-based study found...
21 KB (2,225 words) - 15:49, 20 August 2024
KCNH2 have been identified with LQT2. Mutations in sodium channel gene SCN5A have been identified with LQT3. Mutations in potassium channel gene KCNJ2...
24 KB (2,710 words) - 10:10, 23 September 2024
responsible for the formation of the alpha subunit of the sodium channel (SCN5A). Common cardiac pharmacology such as beta-blockers, calcium channel blockers...
12 KB (1,188 words) - 15:30, 29 July 2024
the same gene. An overlap syndrome can be seen whereby a mutation in the SCN5A gene encoding the cardiac sodium channel causes a reduction in the peak...
6 KB (631 words) - 10:42, 18 May 2023
candidate) 9q13 CMD1C 601493 LDB3 10q22-q23 CMD1D 601494 TNNT2 1q32 CMD1E 601154 SCN5A 3p CMD1F 602067 6q23 CMD1G 604145 TTN 2q31 CMD1H 604288 2q14-q22 CMD1I 604765...
38 KB (3,637 words) - 06:02, 5 June 2024