Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …
Genetic studies have identified an increasing collection of disease-causing genes. The …
Cardiac and neuronal HCN channelopathies
I Rivolta, A Binda, A Masi, JC DiFrancesco - Pflügers Archiv-European …, 2020 - Springer
Hyperpolarization-activated cyclic nucleotide–gated (HCN) channels are expressed as four
different isoforms (HCN1-4) in the heart and in the central and peripheral nervous systems …
different isoforms (HCN1-4) in the heart and in the central and peripheral nervous systems …
[PDF][PDF] Structures of the human HCN1 hyperpolarization-activated channel
CH Lee, R MacKinnon - Cell, 2017 - cell.com
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels underlie the control of
rhythmic activity in cardiac and neuronal pacemaker cells. In HCN, the polarity of voltage …
rhythmic activity in cardiac and neuronal pacemaker cells. In HCN, the polarity of voltage …
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons
INTRODUCTION SHANK3 is a scaffolding protein that is enriched in postsynaptic densities
of excitatory synapses but ubiquitously expressed in most cells. SHANK3 gene mutations …
of excitatory synapses but ubiquitously expressed in most cells. SHANK3 gene mutations …
Ion channel genes and epilepsy: functional alteration, pathogenic potential, and mechanism of epilepsy
F Wei, LM Yan, T Su, N He, ZJ Lin, J Wang, YW Shi… - Neuroscience …, 2017 - Springer
Ion channels are crucial in the generation and modulation of excitability in the nervous
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …
system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion …
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
C Marini, A Porro, A Rastetter, C Dalle, I Rivolta… - Brain, 2018 - academic.oup.com
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal
excitability and their dysfunction has been linked to epileptogenesis but few individuals with …
excitability and their dysfunction has been linked to epileptogenesis but few individuals with …
The hyperpolarization-activated cyclic nucleotide–gated channels: from biophysics to pharmacology of a unique family of ion channels
L Sartiani, G Mannaioni, A Masi, MN Romanelli… - Pharmacological …, 2017 - ASPET
Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels are important
members of the voltage-gated pore loop channels family. They show unique features: they …
members of the voltage-gated pore loop channels family. They show unique features: they …
Advances in high-speed atomic force microscopy (HS-AFM) reveal dynamics of transmembrane channels and transporters
GR Heath, S Scheuring - Current opinion in structural biology, 2019 - Elsevier
Highlights•HS-AFM detects conformational changes of unlabeled membrane proteins.•In situ
responses to pH, ligands, temperature and light can be visualized.•Developments in …
responses to pH, ligands, temperature and light can be visualized.•Developments in …
[HTML][HTML] A-Type KV Channels in Dorsal Root Ganglion Neurons: Diversity, Function, and Dysfunction
BM Zemel, DM Ritter, M Covarrubias… - Frontiers in molecular …, 2018 - frontiersin.org
A-type voltage-gated potassium (Kv) channels are major regulators of neuronal excitability
that have been mainly characterized in the central nervous system. By contrast, there is a …
that have been mainly characterized in the central nervous system. By contrast, there is a …
[PDF][PDF] Sleep spindles in rats with absence epilepsy
E Sitnikova - Sleep Spindles & Cortical Up States, 2021 - akjournals.com
Absence epilepsy is an idiopathic generalized non-convulsive type of epilepsy associated
with aberrant activity in the thalamocortical network. The common neuronal network …
with aberrant activity in the thalamocortical network. The common neuronal network …