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 …

[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 …

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 …

[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 …

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

LH Eunson, R Rea, SM Zuberi… - Annals of Neurology …, 2000 - Wiley Online Library
Abstract Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system
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 …

Mutations in KCND3 cause spinocerebellar ataxia type 22

YC Lee, A Durr, K Majczenko, YH Huang… - Annals of …, 2012 - Wiley Online Library
Objective: To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal
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 …

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 …

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 …