Voltage-gated ion channels and hereditary disease
F Lehmann-Horn, K Jurkat-Rott - Physiological reviews, 1999 - journals.physiology.org
By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …
electronics, and recombinant DNA techniques, research in physiology has become …
[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 …
De novo point mutations in patients diagnosed with ataxic cerebral palsy
R Parolin Schnekenberg, EM Perkins, JW Miller… - Brain, 2015 - academic.oup.com
Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently
considered to be caused by birth asphyxia. Genetic investigations are rarely performed in …
considered to be caused by birth asphyxia. Genetic investigations are rarely performed in …
[HTML][HTML] Kv1. 1 channelopathies: pathophysiological mechanisms and therapeutic approaches
MC D'adamo, A Liantonio, JF Rolland… - International journal of …, 2020 - mdpi.com
Kv1. 1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a
critical regulator of neuronal excitability in the central and peripheral nervous systems …
critical regulator of neuronal excitability in the central and peripheral nervous systems …
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
Abstract Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system
potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous …
potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous …
Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration
NH Shah, E Aizenman - Translational stroke research, 2014 - Springer
Voltage-gated potassium (Kv) channels are widely expressed in the central and peripheral
nervous system and are crucial mediators of neuronal excitability. Importantly, these …
nervous system and are crucial mediators of neuronal excitability. Importantly, these …
Mutations in KCND3 cause spinocerebellar ataxia type 22
Objective: To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal
dominant cerebellar ataxia mapped to chromosome 1p21‐q23. Methods: We previously …
dominant cerebellar ataxia mapped to chromosome 1p21‐q23. Methods: We previously …
The neuronal channelopathies
DM Kullmann - Brain, 2002 - academic.oup.com
This review addresses the molecular and cellular mechanisms of diseases caused by
inherited mutations of ion channels in neurones. Among important recent advances is the …
inherited mutations of ion channels in neurones. Among important recent advances is the …
Dendrotoxins: structure-activity relationships and effects on potassium ion channels
AL Harvey, B Robertson - Current medicinal chemistry, 2004 - ingentaconnect.com
Dendrotoxins are small proteins isolated from mamba (Dendroaspis) snakes. The original
dendrotoxin was found in venom of the Eastern green mamba, Dendroaspis angusticeps …
dendrotoxin was found in venom of the Eastern green mamba, Dendroaspis angusticeps …
A mouse model of episodic ataxia type-1
PS Herson, M Virk, NR Rustay, CT Bond… - Nature …, 2003 - nature.com
Abstract Episodic ataxia type-1 (EA1) is a dominant human neurological disorder
characterized by stress-induced attacks of ataxia. EA1 is caused by mutations in the voltage …
characterized by stress-induced attacks of ataxia. EA1 is caused by mutations in the voltage …