(Q36774725)

16 August 2017

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title

Episodic ataxia type 1: a neuronal potassium channelopathy (English)

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16 August 2017

main subject

episodic ataxia type 1

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Stephanie Schorge

2

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Dimitri Kullmann

object named as

Dimitri M Kullmann

series ordinal

3

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Michael Hanna

series ordinal

4

object named as

Michael G Hanna

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16 August 2017

author name string

Sanjeev Rajakulendran

series ordinal

1

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16 August 2017

publication date

1 April 2007

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16 August 2017

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16 August 2017

volume

4

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16 August 2017

issue

2

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16 August 2017

page(s)

258-266

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https://scigraph.springernature.com/pub.10.1016/j.nurt.2007.01.010

16 August 2017

exact match

0 references

cites work

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21 January 2018

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The inherited episodic ataxias: how well do we understand the disease mechanisms?

21 January 2018

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Hereditary paroxysmal ataxia: Response to acetazolamide

21 January 2018

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Familial paroxysmal kinesigenic ataxia and continuous myokymia.

21 January 2018

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Three novel KCNA1 mutations in episodic ataxia type I families

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

21 January 2018

2 references

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

21 January 2018

12 December 2020

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Progressive ataxia due to a missense mutation in a calcium-channel gene

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

21 January 2018

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Missense CACNA1A mutation causing episodic ataxia type 2

21 January 2018

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A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

21 January 2018

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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

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Clinical spectrum of episodic ataxia type 2.

21 January 2018

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The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

21 January 2018

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A novel mutation in KCNA1 causes episodic ataxia without myokymia

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

21 January 2018

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Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy

21 January 2018

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Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide

21 January 2018

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Deletion of the K(V)1.1 potassium channel causes epilepsy in mice.

21 January 2018

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A potassium channel mutation in neonatal human epilepsy

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

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https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Production of seizures and brain damage in rats by alpha-dendrotoxin, a selective K+ channel blocker.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Overview of molecular relationships in the voltage-gated ion channel superfamily.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Inactivation properties of voltage-gated K+ channels altered by presence of beta-subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Subunit composition of Kv1 channels in human CNS

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Episodic ataxia results from voltage-dependent potassium channels with altered functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Localization of voltage-gated ion channels in mammalian brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A mouse model of episodic ataxia type-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Neurological potassium channelopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Involvement of kv1 potassium channels in spreading acidification and depression in the cerebellar cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.NURT.2007.01.010

Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p

21 January 2018

1 reference

12 December 2020

Episodic ataxias as channelopathies

1 reference

12 December 2020

Magnetic Resonance Imaging in Familial Paroxysmal Ataxia

1 reference

12 December 2020

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system

1 reference

12 December 2020

Immunohistochemical localization of five members of the Kv1 channel subunits: contrasting subcellular locations and neuron-specific co-localizations in rat brain

1 reference

12 December 2020

Specific alteration of spontaneous GABAergic inhibition in cerebellar purkinje cells in mice lacking the potassium channel Kv1. 1.

1 reference

12 December 2020

Autosomal dominant episodic ataxia: a heterogeneous syndrome

1 reference

12 December 2020

Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine

1 reference

12 December 2020

Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency

1 reference

12 December 2020

A gene for episodic ataxia/myokymia maps to chromosome 12p13.

1 reference

12 December 2020

Acetazolamide-responsive hereditary paroxysmal ataxia: report of a new family.

1 reference

12 December 2020

Induction of seizures by the potent K+ channel-blocking scorpion venom peptide toxins tityustoxin-K(alpha) and pandinustoxin-K(alpha)

1 reference

12 December 2020

Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain

1 reference

12 December 2020

Clinical features of a large Australian pedigree with episodic ataxia type 1

1 reference

12 December 2020

Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves

1 reference

12 December 2020

Hereditary myokymia and periodic ataxia

1 reference

12 December 2020

Contractures, continuous muscle discharges, and titubation

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary paroxysmal ataxia with neuromyotonia

1 reference

12 December 2020

Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation

1 reference

12 December 2020

10.1016/J.NURT.2007.01.010

Identifiers

DOI

1 reference

Dimensions Publication ID

16 August 2017

1011344994

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1 reference