• Thumbnail for SCN5A
    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 (2,990 words) - 07:50, 12 July 2024
  • Thumbnail for Brugada syndrome
    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 (5,883 words) - 23:23, 21 July 2024
  • Thumbnail for Romano–Ward syndrome
    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) - 22:05, 15 May 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) - 04:33, 1 February 2024
  • Thumbnail for Sudden arrhythmic death syndrome
    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...
    20 KB (2,217 words) - 13:55, 30 June 2024
  • degeneration of the conduction system. One form has been associated with SCN5A. The use of electrocardiograms, especially in non-specialized settings like...
    5 KB (420 words) - 05:45, 24 July 2024
  • Thumbnail for Long QT syndrome
    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) - 19:04, 11 June 2024
  • Thumbnail for Sinus node dysfunction
    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) - 11:32, 14 December 2023
  • 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
  • Thumbnail for Dilated cardiomyopathy
    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
  • Thumbnail for Sodium channel
    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 (5,597 words) - 08:29, 23 July 2024
  • Thumbnail for Benign early repolarization
    voltage gated calcium current - CACNA1C, CACNB2B, CACNA2D1, sodium current - SCN5A, SCN10A. Early repolarization with ST segment elevation was first described...
    15 KB (1,463 words) - 01:15, 10 July 2024
  • Thumbnail for Methadone
    Methadone is also known to block the Nav1.5 voltage-gated Na+ channel (SCN5A) with an IC50 of ~10 μM, which is similar to the local anesthetic bupivacaine...
    76 KB (7,675 words) - 13:03, 14 July 2024
  • Thumbnail for Irritable bowel syndrome
    inflammatory processes and immune responses, as well as psychosocial factors. SCN5A mutations are found in a small number of people who have IBS, particularly...
    131 KB (14,424 words) - 13:32, 24 July 2024
  • Thumbnail for Cardiac action potential
    2002.129255. ISSN 1071-9164. PMID 12555135. Sherwood 2008, pp. 248–50. "SCN5A sodium channel, voltage-gated, type V, alpha subunit [Homo sapiens (human)]"...
    46 KB (5,430 words) - 18:10, 24 April 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...
    34 KB (3,587 words) - 12:35, 24 June 2024
  • Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A". J. Cardiovasc. Electrophysiol. 15 (1): 64–9. doi:10.1046/j.1540-8167.2004...
    5 KB (476 words) - 10:24, 5 October 2023
  • syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)". Journal of Clinical Investigation. 112 (7): 1019–1028. doi:10.1172/JCI18062...
    12 KB (860 words) - 02:48, 14 July 2024
  • (TNF-SF15); intracellular cell signaling (G proteins); and ion channels (SCN5A). However, the expression of a FGID requires the influence of additional...
    34 KB (3,855 words) - 09:17, 3 July 2024
  • Thumbnail for Atrial fibrillation
    among others. Six variations in genes of Na+ channels that include SCN1-4B, SCN5A and SCN10A have also been found. All of these mutations affect the processes...
    160 KB (17,800 words) - 05:02, 22 July 2024
  • Thumbnail for PDZ domain
    PRX PSCDBP PTPN13 PTPN3 PTPN4 RAPGEF2 RGS12 RGS3 RHPN1 RIL RIMS1 RIMS2 SCN5A SCRIB SDCBP SDCBP2 SHANK1 SHANK2 SHANK3 SHROOM2 SHROOM3 SHROOM4 SIPA1 SIPA1L1...
    34 KB (3,565 words) - 02:04, 3 December 2023
  • Thumbnail for Developmental bioelectricity
    Hales, T. G; Stuart, J. M; Lee, N. H (2010). "Voltage-gated Na+ channel SCN5A is a key regulator of a gene transcriptional network that controls colon...
    173 KB (17,264 words) - 08:00, 8 May 2024
  • Thumbnail for Ajmaline
    genetic disease that can result in mutations in the sodium ion channel (gene SCN5A) of the myocytes in the heart. Brugada syndrome can result in ventricular...
    14 KB (1,301 words) - 11:44, 3 May 2024
  • Thumbnail for Cation channel superfamily
    KCNN4) KCa5.1 (Slo3, KCNU1) NALCN SCN1A; SCN2A; SCN2A2; SCN3A; SCN4A; SCN5A; SCN7A; SCN8A; SCN9A; SCN10A; SCN11A SLC9A10; SLC9A11 CNGA1; CNGA2; CNGA3;...
    19 KB (1,692 words) - 03:53, 29 November 2023
  • Thumbnail for Chromosome 3
    RBM6: RNA-binding protein 6 RPP14: Ribonuclease P protein subunit p14 SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) SETD5:...
    34 KB (1,978 words) - 16:11, 20 April 2024
  • Q9NY72 14374 SCN4A HGNC:10591 P35499 14375 SCN4B HGNC:10592 Q8IWT1 14376 SCN5A HGNC:10593 Q14524 14377 SCN7A HGNC:10594 Q01118 14378 SCN8A HGNC:10596 Q9UQD0...
    282 KB (17 words) - 07:55, 20 June 2024
  • Thumbnail for Molecular autopsy
    tested. The molecular autopsy focuses on four main genes: KCNQ1, KCNH2, SCN5A, and RYR2. Greater than 95% of the mutations found in the molecular autopsy...
    12 KB (1,912 words) - 14:35, 27 October 2023
  • J, T and U waves. Between 1996 and 1998 MMRI published the first gene, SCN5A, to be linked to idiopathic ventricular fibrillation (IVF). The MMRI named...
    16 KB (1,815 words) - 04:34, 1 April 2024
  • consensus binding site a site homologous to the cardiac sodium channel SCN5A C-terminal lysine-206 residue Northern blot analysis detected a single GPD1L...
    3 KB (313 words) - 22:11, 3 March 2023
  • Thumbnail for EF hand
    S100A11; S100A12; S100A6; S100A8; S100A9; S100B; S100G; S100Z; SCAMC-2; SCGN; SCN5A; SDF4; SLC25A12; SLC25A13; SLC25A23; SLC25A24; SLC25A25; SPATA21; SPTA1;...
    17 KB (2,077 words) - 14:28, 10 June 2024