Ask about this productRelated genes to: SCN5A antibody
- Gene:
- SCN5A NIH gene
- Name:
- sodium voltage-gated channel alpha subunit 5
- Previous symbol:
- CMD1E
- Synonyms:
- Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-10
- Date modifiied:
- 2019-04-23
Related products to: SCN5A antibody
Related articles to: SCN5A antibody
- Brugada phenocopy is a reversible Brugada pattern on an electrocardiogram (ECG) caused by identifiable clinical conditions (such as fever, electrolyte abnormalities, or drug exposure) in patients without true congenital Brugada syndrome, which is an inherited arrhythmogenic disorder often associated with SCN5A mutations. - Source: PubMed
Publication date: 2026/03/16
Haque Obaid IUr Rehman ObaidOthman LeenMozayan MansoorAronis Konstantinos N - Gain-of-function variants in SCN5A may cause multifocal ectopic Purkinje-related premature contractions (MEPPC), with a high premature ventricular contraction burden that may lead to PVC-induced cardiomyopathy. Pharmacological therapy is usually required, as catheter ablation is ineffective because of the multifocal origin of the ectopy. - Source: PubMed
Publication date: 2026/05/20
Fonseca Isabella Moreira GonzalezFrança Anna TerraCarmo André Assis Lopes dovan der Crabben Saskia Nvan der Werf ChristianWilde Arthur A M - Early pregnancy loss (EPL), particularly when recurrent, represents a profoundly distressing experience for affected couples. Although chromosomal abnormalities are the most common cause of EPL, a substantial proportion of cases, especially those involving euploid embryos, remain unexplained. In this study, we investigated the potential contribution of rare monogenic variants to euploid EPL using whole-exome sequencing (WES). WES was performed on 66 euploid products of conceptions (POCs) from EPLs occurring before 12 gestational weeks. A molecular diagnosis with a high level of confidence, defined as the presence of pathogenic or likely pathogenic (P/LP) variant(s) consistent with the expected mode of inheritance, was established in 13/66 POCs (19.7%). These included one large 21q22.12-q22.3 duplication encompassing and . P/LP small variants were detected in , , , , , , , , and , representing genes with variable degrees of prior association with developmental phenotypes and, in some cases, limited or no evidence for embryonic lethality. In an additional 9/66 POCs (13.6%), findings were suggestive but not conclusive for a monogenic contribution. These included four cases with compound heterozygosity involving a pathogenic variant and a variant of uncertain significance (VUS) in autosomal recessive genes (, , , and ), as well as five cases harboring single heterozygous VUS in autosomal dominant genes (, , , , and ). The pathogenic relevance of these variants remains uncertain, particularly in the absence of functional validation. The implicated genes were clustered in biological categories: 1) genes plausibly associated with prenatal or early embryonic lethality, 2) genes causing severe congenital disorders not typically considered embryonically lethal, and 3) genes linked to later-onset or susceptibility phenotypes. These observations are consistent with a spectrum model in which highly deleterious variants may act as primary drivers of embryonic demise, whereas variants with reduced penetrance, later-onset associations or uncertain significance may contribute in a multifactorial context, potentially interacting with additional genetic, maternal or environmental factors. In conclusion, our findings suggest that monogenic variants may contribute to a subset of euploid EPL cases, although the strength of evidence varies considerably across detected variants. The integration of WES into the evaluation of recurrent euploid pregnancy loss holds promise but should be interpreted with caution. Further studies incorporating functional analyses, larger cohorts, and parental data are needed to clarify causality and to define the clinical utility of such approaches in genetic counseling, recurrence-risk assessment, and reproductive planning. - Source: PubMed
Publication date: 2026/05/14
Bozhinovski GjNoveski PTerzikj MKubelka-Sabit KPlaseska-Karanfilska D - Cardiac toxicity from QT-prolonging drugs can precipitate malignant ventricular arrhythmias in susceptible individuals, and family screening may clarify inherited risk. We report a 33-year-old woman with a history of postpartum cardiac arrest treated with a secondary-prevention implantable cardioverter-defibrillator (ICD) who developed an electrical storm after self-administration of a single low dose of amitriptyline (12.5 mg). ICD interrogation documented 176 episodes of ventricular fibrillation requiring repeated shocks, followed by complete battery depletion, hemodynamic collapse, and the need for venoarterial extracorporeal membrane oxygenation and continuous renal replacement therapy. The admission electrocardiogram showed marked QT prolongation (QTc 651 ms), with previously documented prolonged baseline QTc values. Targeted next-generation sequencing identified a novel SCN5A missense variant (NM_000335.5:c.5738G > A) and a rare pathogenic KCNQ1 splice variant (NM_000218.3:c.1032G > C), cascade testing across the family demonstrated variable expressivity among carriers. Given a suspected contribution of late sodium current, a mechanism-based strategy was implemented with mexiletine added to propranolol and overdrive pacing (90 bpm). This case underscores the risk of malignant ventricular arrhythmias after exposure to QT-prolonging agents even at low doses, and supports genotype-informed, mechanism-based therapy to mitigate arrhythmic risk in patients with marked QT prolongation. - Source: PubMed
Publication date: 2026/05/13
Vo Thai DuyKieu Ngoc DungTran Le Uyen PhuongVan Khanh Nguyen ThiNguyen Tri ThucLo Li-WeiDao Thi Thanh Binh - Brugada syndrome (BrS) is a rare but potentially life-threatening condition that may lead to sudden cardiac death. Among the causes, dysfunctions of ion channels involved in the cardiac action potential (specifically in and genes) are particularly significant. Among diagnosed Brugada patients, fever-induced episodes occur in 20-30% of cases. Fever worsens sodium channel dysfunction, as elevated temperature further reduces their conductance. First clinical manifestation of BrS occurs usually during a febrile episode, especially in young people. We performed a multiparametric examination in addition to genetic analysis. We treated a 19-year-old man presenting with subfebrility. During the patient's subfebrile episodes, 12-lead ECG recordings revealed ST-segment elevations in leads V1-V3. Notably, the patient remained asymptomatic. Targeted genetic testing of did not reveal any disease-causing variants as an underlying cause of the syndrome, but the temperature-inducing effect was demonstrated. The occurrence of the Brugada type 1 pattern has also been observed at subfebrile episodes, although significantly rarely. This case demonstrates that in susceptible patients, even a relatively mild elevation in body temperature can trigger ion channel dysfunctions. Timely diagnosis and follow-up are important in preserving quality of life and preventing fatal outcomes. - Source: PubMed
Publication date: 2026/04/28
Hamza IldikóVégh LillaSebestyén VeronikaGulyás EszterJuhász BélaSomodi SándorRatku BalázsSzűcs ZsuzsannaKoczok KatalinBalogh IstvánSzabó ZoltánUjvárosy Dóra