(Q34372981)

1 August 2017

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. (English)

1 reference

1 August 2017

1 reference

Dimitri M Kullmann

3

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Michael Hanna

6

object named as

Michael G Hanna

1 reference

1 August 2017

Susan E Tomlinson

1

1 reference

1 August 2017

S Veronica Tan

2

1 reference

1 August 2017

Robert C Griggs

4

1 reference

1 August 2017

David Burke

5

1 reference

1 August 2017

Hugh Bostock

7

1 reference

1 August 2017

language of work or name

English

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publication date

23 November 2010

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1 August 2017

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1 August 2017

133

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1 August 2017

Pt 12

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1 August 2017

3530-3540

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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Mechanisms of human inherited epilepsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Localization and targeting of voltage-dependent ion channels in mammalian central neurons.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Genetic neurological channelopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Oxaliplatin and axonal Na+ channel function in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Acute tetrodotoxin-induced neurotoxicity after ingestion of puffer fish

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Phenotypic variants of autoimmune peripheral nerve hyperexcitability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Excitability of human axons

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Excitability properties of motor axons in patients with spontaneous motor unit activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

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

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

6 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Evidence for two types of potassium channel in human motor axons in vivo.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Function and distribution of three types of rectifying channel in rat spinal root myelinated axons.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995887

Myelinating Schwann cells determine the internodal localization of Kv1.1, Kv1.2, Kvbeta2, and Caspr.

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Effects of age on excitability properties in human motor axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

The spatial distribution of excitability and membrane current in normal and demyelinated mammalian nerve fibres

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

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/10.1093%2FBRAIN%2FAWQ318

Plasticity of inwardly rectifying conductances following a corticospinal lesion in human subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Changes in measures of motor axon excitability with age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Evidence for axonal membrane hyperpolarization in multifocal motor neuropathy with conduction block.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Nerve excitability changes in chronic renal failure indicate membrane depolarization due to hyperkalaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Strength-duration properties of human peripheral nerve.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Action potentials and membrane currents in the human node of Ranvier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Generator sites for spontaneous activity in neuromyotonia. An EMG study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ318

Neurological Channelopathies

21 January 2018

1 reference

12 December 2020

Multiple measures of axonal excitability: a new approach in clinical testing

1 reference

12 December 2020

Effects of temperature on the excitability properties of human motor axons

1 reference

12 December 2020

Hereditary myokymia and periodic ataxia

1 reference

12 December 2020

The exercise test in periodic paralysis

1 reference

12 December 2020

The use of botulinum toxin in localizing neuromyotonia to the terminal branches of the peripheral nerve

1 reference

12 December 2020

Electromyography guides toward subgroups of mutations in muscle channelopathies.

1 reference

12 December 2020

Outwardly rectifying deflections in threshold electrotonus due to K+ conductances

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ318

1 reference

1 August 2017

1 reference

1 August 2017

1 reference