Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1 (Q28344387)

4

object named as

Michael G Hanna

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author name string

Ruth Rea

1

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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

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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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page(s)

5-23

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issue

Pt 1

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cites work

1 reference

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Subunit composition of Kv1 channels in human CNS

20 March 2017

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

20 March 2017

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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

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

29 September 2017

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Three novel KCNA1 mutations in episodic ataxia type I families

20 March 2017

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

20 March 2017

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

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

20 March 2017

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A potassium channel mutation in neonatal human epilepsy

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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Recognition of unique carboxyl-terminal motifs by distinct PDZ domains

20 March 2017

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Voltage-gated potassium channels: from hyperexcitability to excitement

7 April 2017

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Evidence for dimerization of dimers in K+ channel assembly

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

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

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

29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

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

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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

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

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Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes

2 June 2018

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The aromatic binding site for tetraethylammonium ion on potassium channels

2 June 2018

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

2 June 2018

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

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Familial paroxysmal kinesigenic ataxia and continuous myokymia.

21 January 2018

1 reference

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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