Neurological perspectives on voltage-gated sodium channels
N Eijkelkamp, JE Linley, MD Baker, MS Minett, R Cregg… - Brain, 2012 - academic.oup.com
The activity of voltage-gated sodium channels has long been linked to disorders of neuronal
excitability such as epilepsy and chronic pain. Recent genetic studies have now expanded …
excitability such as epilepsy and chronic pain. Recent genetic studies have now expanded …
Inherited disorders of voltage-gated sodium channels
AL George - The Journal of clinical investigation, 2005 - Am Soc Clin Investig
A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm,
and nervous system function have been traced to mutations in genes encoding voltage …
and nervous system function have been traced to mutations in genes encoding voltage …
[HTML][HTML] Structure of the cardiac sodium channel
Voltage-gated sodium channel Na v 1.5 generates cardiac action potentials and initiates the
heartbeat. Here, we report structures of Na V 1.5 at 3.2–3.5 Å resolution. Na V 1.5 is …
heartbeat. Here, we report structures of Na V 1.5 at 3.2–3.5 Å resolution. Na V 1.5 is …
Patient-specific and genome-edited induced pluripotent stem cell–derived cardiomyocytes elucidate single-cell phenotype of Brugada syndrome
Abstract Background: Brugada syndrome (BrS), a disorder associated with characteristic
electrocardiogram precordial ST-segment elevation, predisposes afflicted patients to …
electrocardiogram precordial ST-segment elevation, predisposes afflicted patients to …
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
H Watanabe, TT Koopmann… - The Journal of …, 2008 - Am Soc Clin Investig
Brugada syndrome is a genetic disease associated with sudden cardiac death that is
characterized by ventricular fibrillation and right precordial ST segment elevation on ECG …
characterized by ventricular fibrillation and right precordial ST segment elevation on ECG …
Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Decreases Cardiac Na+ Current and Causes Inherited Arrhythmias
B London, M Michalec, H Mehdi, X Zhu, L Kerchner… - Circulation, 2007 - Am Heart Assoc
Background—Brugada syndrome is a rare, autosomal-dominant, male-predominant form of
idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST …
idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST …
Functional Effects of KCNE3 Mutation and Its Role in the Development of Brugada Syndrome
Background—The Brugada syndrome, an inherited syndrome associated with a high
incidence of sudden cardiac arrest, has been linked to mutations in 4 different genes …
incidence of sudden cardiac arrest, has been linked to mutations in 4 different genes …
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
Phenotypic overlap of type 3 long QT syndrome (LQT3) with Brugada syndrome (BrS) is
observed in some carriers of mutations in the Na channel SCN5A. While this overlap is …
observed in some carriers of mutations in the Na channel SCN5A. While this overlap is …
Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation
AO Grant, MP Carboni, V Neplioueva… - The Journal of …, 2002 - Am Soc Clin Investig
The function of the 12 positive charges in the 53-residue III/IV interdomain linker of the
cardiac Na+ channel is unclear. We have identified a four-generation family, including 17 …
cardiac Na+ channel is unclear. We have identified a four-generation family, including 17 …
Biology of cardiac arrhythmias: ion channel protein trafficking
BP Delisle, BD Anson, S Rajamani… - Circulation research, 2004 - Am Heart Assoc
The mechanisms underlying normal and abnormal cardiac rhythms are complex and
incompletely understood. Through the study of uncommon inheritable arrhythmia …
incompletely understood. Through the study of uncommon inheritable arrhythmia …