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Eyelid myotonia and face stiffness in skeletal muscle sodium channelopathy [PDF]
, 2021 Title Eyelid myotonia and face stiffness in skeletal muscle sodium channelopathy Video Legend Video 1. Notice the delayed relaxation of the eyelids after forced eye closure (eyelid myotonia).
Farmakidis, Constantine +2 more
core +1 more source
Frontiers in Physiology, 2020 BackgroundSudden cardiac death (SCD) is an unexpected death that occurs within an hour of the onset of symptoms. Hereditary primary electrical disorders account for up to 1/3 of all SCD cases in younger individuals and include conditions such as ...
Mohammad-Reza Ghovanloo +3 more
doaj +1 more source
Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome
Frontiers in Pharmacology, 2019 Short QT syndrome (SQTS) is associated with sudden cardiac arrest. There are limited data on the impact of antiarrhythmic drugs on the outcome of SQTS.Materials and Methods: We studied data that describe the clinical outcome of 62 SQTS patients treated ...
Ibrahim El-Battrawy +19 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar +7 more
wiley +1 more source
Dravet syndrome-from epileptic encephalopathy to channelopathy
, 2014 Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS ...
Andreas Brunklaus +3 more
core +1 more source
Sodium Channelopathy Underlying Familial Sick Sinus Syndrome With Early Onset and Predominantly Male Characteristics [PDF]
, 2014 Background-Sick sinus syndrome (SSS) is a common arrhythmia often associated with aging or organic heart diseases but may also occur in a familial form with a variable mode of inheritance.
Kohno, Masaki +18 more
core +2 more sources
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
Frontiers in Physiology, 2015 Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Maria Cristina D'Adamo +23 more
doaj +1 more source
Advanced Science, EarlyView.This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo +17 more
wiley +1 more source
Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases
Frontiers in Cardiovascular Medicine, 2016 Sudden cardiac death (SCD) in the young (
Najim eLahrouchi +2 more
doaj +1 more source
The safety of sports in children with inherited arrhythmia substrates
Frontiers in Pediatrics, 2023 Sudden cardiac death (SCD) is a rare and devastating event in children and remains a leading cause of death in young athletes. Channelopathies and cardiomyopathies, in particular long QT syndrome (LQTS), catecholaminergic polymorphic ventricular ...
Abhay Katyal +3 more
doaj +1 more source