There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T>C) in the KCNH2 gene. Functional studies showed that the mutation induces severe loss of function. This observation provides further evidence for a possible link between idiopathic epilepsy and LQTS.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/epi.12259 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Epigenetic Modulations of Non-Coding RNAs: A Novel Therapeutic Perspective in Sjӧgren's Syndrome.
Front Biosci (Landmark Ed)
November 2024
Department of Translational Biomedicine and Neuroscience (DiBraiN), Section of Human Anatomy and Histology, University of Bari "Aldo Moro", 70124 Bari, Italy.
Sjögren's syndrome (SS) is an autoimmune disease that can be classified as an epithelitis based on the immune-mediated attack directed specifically at epithelial cells. SS predominantly affects women, is characterized by the production of highly specific circulating autoantibodies, and the major targets are the salivary and lachrymal glands. Although a genetic predisposition has been amply demonstrated for SS, the etiology remains unclear.
View Article and Find Full Text PDFTools for regulating metabolic diseases: extracellular vesicles from adipose macrophages.
Front Endocrinol (Lausanne)
December 2024
Department of Rehabilitation, Jiujiang College Hospital, Jiujiang, Jiangxi, China.
Metabolic diseases have gradually become one of the most significant global medical burdens. Diseases such as obesity, diabetes, and metabolic syndrome, along with their complications, are clinically categorized as metabolic diseases. Long-term oral medication significantly reduces patient compliance and quality of life.
View Article and Find Full Text PDFConnecting dots of long COVID-19 pathogenesis: a vagus nerve- hypothalamic-pituitary- adrenal-mitochondrial axis dysfunction.
Front Cell Infect Microbiol
December 2024
Clinical and Research Infectious Diseases Department, National Institute for Infectious Diseases Lazzaro Spallanzani Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
The pathogenesis of long COVID (LC) still presents many areas of uncertainty. This leads to difficulties in finding an effective specific therapy. We hypothesize that the key to LC pathogenesis lies in the presence of chronic functional damage to the main anti-inflammatory mechanisms of our body: the three reflexes mediated by the vagus nerve, the hypothalamic-pituitary-adrenal (HPA) hormonal axis, and the mitochondrial redox status.
View Article and Find Full Text PDFClinical study of Jianpi Qingchang decoction in the treatment of ulcerative colitis patients with spleen deficiency and dampness-heat syndrome accompanied by fatigue: Study protocol for a randomized controlled trial.
Contemp Clin Trials Commun
December 2024
Department of Gastroenterology, Shanghai Traditional Chinese Medicine-Integrated Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200082, China.
Background: Ulcerative colitis (UC) is a chronic non-specific inflammatory intestinal disease, categoried under "dysentery" and "intestinal bleeding" in Traditional Chinese Medicine (TCM). Jianpi Qingchang decoction (JPQC) is a combination formula specifically designed for the treatment of UC. The primary objective of this study is to examine the clinical efficacy of JPQC in individuals diagnosed with UC who exhibit both spleen deficiency and dampness-heat syndrome, along with the presence of fatigue.
View Article and Find Full Text PDFThe Application of Mesenchymal Stem Cell Therapy in Treating Pulmonary Fibrosis: A Scoping Review.
Cureus
November 2024
Osteopathic Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Pulmonary fibrosis (PF) is a medical condition that affects the lungs and causes scarring due to the deposition of excess fibrotic tissue. This is often preceded by various causes and can lead to long-term health consequences. The treatment of PF using mesenchymal stem cells (MSCs) to correct lung damage and decrease inflammation is a current focus of research.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!