Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family
Objective: De novo missense variants in KCNQ5, encoding the voltage gated K+ channel KV7.5, have bee...
AbstractHereditary long QT syndrome (LQTS) is associated with ventricular torsade de pointes tachyar...
BACKGROUND: Genes associated with Long QT syndromes (LQTS), such as KCNQ1, KCNH2, and SCN5A, are com...
AbstractPurposeIon channels are expressed both in the heart and in the brain, being advocated as res...
International audienceThere has been increased interest in a possible association between epilepsy c...
There has been increased interest in a possible association between epilepsy channelopathies and car...
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudd...
We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and ne...
Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac a...
AbstractMany idiopathic epilepsies have been shown to be caused by ion channel dysfunction. Channelo...
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion channel ge...
Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epil...
rn al o f P hy si ol og y Mutations in genes encoding voltage-gated ion channels can cause inherited...
Epilepsy affects approximately 3 % of the world’s population, and sudden death is a significant caus...
Epilepsy affects approximately 3 % of the world's population, and sudden death is a significant caus...
Objective: De novo missense variants in KCNQ5, encoding the voltage gated K+ channel KV7.5, have bee...
AbstractHereditary long QT syndrome (LQTS) is associated with ventricular torsade de pointes tachyar...
BACKGROUND: Genes associated with Long QT syndromes (LQTS), such as KCNQ1, KCNH2, and SCN5A, are com...
AbstractPurposeIon channels are expressed both in the heart and in the brain, being advocated as res...
International audienceThere has been increased interest in a possible association between epilepsy c...
There has been increased interest in a possible association between epilepsy channelopathies and car...
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudd...
We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and ne...
Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac a...
AbstractMany idiopathic epilepsies have been shown to be caused by ion channel dysfunction. Channelo...
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion channel ge...
Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epil...
rn al o f P hy si ol og y Mutations in genes encoding voltage-gated ion channels can cause inherited...
Epilepsy affects approximately 3 % of the world’s population, and sudden death is a significant caus...
Epilepsy affects approximately 3 % of the world's population, and sudden death is a significant caus...
Objective: De novo missense variants in KCNQ5, encoding the voltage gated K+ channel KV7.5, have bee...
AbstractHereditary long QT syndrome (LQTS) is associated with ventricular torsade de pointes tachyar...
BACKGROUND: Genes associated with Long QT syndromes (LQTS), such as KCNQ1, KCNH2, and SCN5A, are com...