(Q28344387)

4

object named as

Michael G Hanna

0 references

author name string

Ruth Rea

1

0 references

Alexander Spauschus

2

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Louise H Eunson

3

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language of work or name

English

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publication date

1 January 2002

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number of pages

19

1 reference

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

inferred from page(s)

published in

Journal of Physiology

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volume

538

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issue

Pt 1

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page(s)

5-23

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Subunit composition of Kv1 channels in human CNS

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Three novel KCNA1 mutations in episodic ataxia type I families

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

A potassium channel mutation in neonatal human epilepsy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Recognition of unique carboxyl-terminal motifs by distinct PDZ domains

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Voltage-gated potassium channels: from hyperexcitability to excitement

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Evidence for dimerization of dimers in K+ channel assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Electrostatic interactions between transmembrane segments mediate folding of Shaker K+ channel subunits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Multiple subunits of a voltage-dependent potassium channel contribute to the binding site for tetraethylammonium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Tandem linkage of Shaker K+ channel subunits does not ensure the stoichiometry of expressed channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Subunit folding and assembly steps are interspersed during Shaker potassium channel biogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Inactivation of a voltage-dependent K+ channel by beta subunit. Modulation by a phosphorylation-dependent interaction between the distal C terminus of alpha subunit and cytoskeleton

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Phosphorylation of a K+ channel alpha subunit modulates the inactivation conferred by a beta subunit. Involvement of cytoskeleton

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

The aromatic binding site for tetraethylammonium ion on potassium channels

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

Subunit stoichiometry of a mammalian K+ channel determined by construction of multimeric cDNAs.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2290030

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

2 June 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2001.013242

Familial paroxysmal kinesigenic ataxia and continuous myokymia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2001.013242

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/10.1113%2FJPHYSIOL.2001.013242

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1113%2FJPHYSIOL.2001.013242

Mutations affecting TEA blockade and ion permeation in voltage-activated K+ channels

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11773313

12 December 2020

inferred from PubMed ID database lookup

Functional expression of GFP-tagged Kv1.3 and Kv1.4 channels in HEK 293 cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11773313

12 December 2020

inferred from PubMed ID database lookup

Autosomal dominant episodic ataxia: a heterogeneous syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11773313

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1113/JPHYSIOL.2001.013242

1 reference

Consolidated OpenCitations Corpus – April 2017

release_hm7fa24o2fh77dhkn4qdblmtjq

233034

Fatcat ID

0 references

233034

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

0 references

1 reference