Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
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 …
Neuromodulation of neurons and synapses
Highlights•Modulation of synaptic strength can occur through changes in short-term
plasticity.•Modulators can shape or induce long-term synaptic plasticity.•Modulators can …
plasticity.•Modulators can shape or induce long-term synaptic plasticity.•Modulators can …
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
G Barcia, MR Fleming, A Deligniere, VR Gazula… - Nature …, 2012 - nature.com
Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of
infancy that combines pharmacoresistant seizures with developmental delay. We performed …
infancy that combines pharmacoresistant seizures with developmental delay. We performed …
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
CJ Milligan, M Li, EV Gazina, SE Heron… - Annals of …, 2014 - Wiley Online Library
Objective Mutations in KCNT1 have been implicated in autosomal dominant nocturnal
frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures …
frontal lobe epilepsy (ADNFLE) and epilepsy of infancy with migrating focal seizures …
High-conductance potassium channels of the SLO family
L Salkoff, A Butler, G Ferreira, C Santi… - Nature Reviews …, 2006 - nature.com
Abstract High-conductance,'big'potassium (BK) channels encoded by the Slo gene family
are among the largest and most complex of the extended family of potassium channels. The …
are among the largest and most complex of the extended family of potassium channels. The …
[PDF][PDF] K+ Channels: Function‐Structural Overview
C González, D Baez‐Nieto, I Valencia… - Comprehensive …, 2012 - academia.edu
Potassium channels are particularly important in determining the shape and duration of the
action potential, controlling the membrane potential, modulating hormone secretion …
action potential, controlling the membrane potential, modulating hormone secretion …
Cellular functions of TMEM16/anoctamin
U Oh, J Jung - Pflügers Archiv-European Journal of Physiology, 2016 - Springer
Abstract Ca 2+-activated Cl− channels (CaCCs) are a class of Cl− channels activated by
intracellular Ca 2+ that are known to mediate numerous physiological functions. In 2008, the …
intracellular Ca 2+ that are known to mediate numerous physiological functions. In 2008, the …
Structural basis of human Slo2. 2 channel gating and modulation
Summary The sodium-activated Slo2. 2 channel is abundantly expressed in the brain,
playing a critical role in regulating neuronal excitability. The Na+-binding site and the …
playing a critical role in regulating neuronal excitability. The Na+-binding site and the …
An epilepsy-associated KCNT1 mutation enhances excitability of human iPSC-derived neurons by increasing slack KNa currents
IH Quraishi, S Stern, KP Mangan, Y Zhang… - Journal of …, 2019 - Soc Neuroscience
Mutations in the KCNT1 (Slack, KNa1. 1) sodium-activated potassium channel produce
severe epileptic encephalopathies. Expression in heterologous systems has shown that the …
severe epileptic encephalopathies. Expression in heterologous systems has shown that the …
International union of basic and clinical pharmacology. C. Nomenclature and properties of calcium-activated and sodium-activated potassium channels
LK Kaczmarek, RW Aldrich, KG Chandy… - Pharmacological …, 2017 - Elsevier
A subset of potassium channels is regulated primarily by changes in the cytoplasmic
concentration of ions, including calcium, sodium, chloride, and protons. The eight members …
concentration of ions, including calcium, sodium, chloride, and protons. The eight members …