Results 21 to 30 of about 5,101 (164)
Polarized axonal surface expression of neuronal KCNQ potassium channels is regulated by calmodulin interaction with KCNQ2 subunit. [PDF]
PLoS ONE, 2014 KCNQ potassium channels composed of KCNQ2 and KCNQ3 subunits give rise to the M-current, a slow-activating and non-inactivating voltage-dependent potassium current that limits repetitive firing of action potentials.
John P Cavaretta +5 more
doaj +1 more source
Wirkungen von Eslicarbazepinacetat in einem Modell der KCNQ2-bedingten Epilepsie [PDF]
, 2023 KCNQ2-related epilepsies encompass a spectrum of rare childhood epilepsies caused by mutations of the gene encoding for the Kv7.2 subunit of non-inactivating potassium channels. KCNQ2-related diseases can be differentiated into two main forms: the benign
Monni, Laura
core +1 more source
eLife, 2018 KCNQ2/3 channels, ubiquitously expressed neuronal potassium channels, have emerged as indispensable regulators of brain network activity. Despite their critical role in brain homeostasis, the mechanisms by which KCNQ2/3 dysfunction lead to hypersychrony ...
Heun Soh +5 more
doaj +1 more source
A change in configuration of the calmodulin-KCNQ channel complex underlies Ca2+-dependent modulation of KCNQ channel activity. [PDF]
PLoS ONE, 2013 All subtypes of KCNQ channel subunits (KCNQ1-5) require calmodulin as a co-factor for functional channels. It has been demonstrated that calmodulin plays a critical role in KCNQ channel trafficking as well as calcium-mediated current modulation. However,
Anastasia Kosenko, Naoto Hoshi
doaj +1 more source
Mouse models of Kcnq2 dysfunction
, 2022 International audienceVariants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epileptic disorders ranging from a benign form with self-limited epileptic seizures and normal development to severe forms with intractable epileptic seizures and
Brun, Lucile +5 more
core +1 more source
, 2022 : Clinical characteristics. KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes caused by a heterozygous pathogenic variant in KCNQ2.
Miceli, Francesco +4 more
core +1 more source
, 2014 Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable ...
Numis, Adam L +6 more
core +1 more source
Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators
Angewandte Chemie, EarlyView.The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia +20 more
wiley +2 more sources
KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report
Frontiers in Neurology, 2020 Introduction: Mutations in KCNQ2 are related to a spectrum of neonatal epileptic phenotypes. Here we report a case of KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE) that is complicated by an incidentally found ventricular tachycardia.Case ...
Yuehang Geng, Xinlin Hou
doaj +1 more source
Heterozygous Deletion of Epilepsy Gene KCNQ2 Has Negligible Effects on Learning and Memory
Frontiers in Behavioral Neuroscience, 2022 Neuronal Kv7/Potassium Voltage-Gated Channel Subfamily Q (KCNQ) potassium channels underlie M-current that potently suppresses repetitive and burst firing of action potentials (APs).
Gregory C. Tracy +7 more
doaj +1 more source