(Q24321507)

GOA release 2020-03-11

neuromuscular process

1 reference

GOA release 2020-03-11

1 reference

Haijun Chen

1

0 references

Christian von Hehn

2

0 references

Leonard K Kaczmarek

3

0 references

Laura R Ment

4

0 references

Barbara R Pober

5

0 references

Fuki M Hisama

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

6

0 references

language of work or name

English

0 references

publication date

April 2007

0 references

published in

Neurogenetics

0 references

volume

8

0 references

issue

2

0 references

page(s)

131-5

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

A novel mutation in KCNA1 causes episodic ataxia without myokymia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

19 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Three novel KCNA1 mutations in episodic ataxia type I families

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Non-conducting functions of voltage-gated ion channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Developmental seizure susceptibility of kv1.1 potassium channel knockout mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Ion channel and striational antibodies define a continuum of autoimmune neuromuscular hyperexcitability

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Evidence of altered inhibition in layer V pyramidal neurons from neocortex of Kcna1-null mice

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Expression of Kv1.1, a Shaker-like potassium channel, is temporally regulated in embryonic neurons and glia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1820748

Hereditary myokymia and periodic ataxia

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17136396

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Policing the ball: a new potassium channel subunit determines inactivation rate

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17136396

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-006-0071-Z