Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]
, 2015 Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core +1 more source
Long QT syndrome in a neonate [PDF]
, 2015 Congenital long QT syndrome (cLQTS) is a channelopathy characterized by ventricular repolarization disturbances. The clinical presentation varies from an asymptomatic patient to a patient with recurrent syncopes, seizures, and even sudden death.
Morales Rodríguez, Idelma Berenise +3 more
core +1 more source
Sudden cardiac death in Andersen–Tawil syndrome [PDF]
EP Europace, 2007 Andersen-Tawil syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by periodic paralysis, dysmorphic features, and ventricular arrhythmias. Although ventricular tachycardia burden is quite high sudden cardiac death in ATS is rare.
Stefan, Peters +3 more
openaire +2 more sources
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]
, 2014 Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A. +7 more
core +4 more sources
Identification of the Conformational transition pathway in PIP2 Opening Kir Channels [PDF]
, 2015 The gating of Kir channels depends critically on phosphatidylinositol 4,5-bisphosphate (PIP2), but the detailed mechanism by which PIP2regulates Kir channels remains obscure.
An, Hailong +11 more
core +5 more sources
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]
, 2016 Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant +45 more
core +5 more sources
Frontiers in Neurology, 2023 Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj +1 more source
Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]
, 2013 Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J. +4 more
core +1 more source
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene. [PDF]
J Cardiol, 2017 Krych M +13 more
europepmc +2 more sources