Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility (Q30499291)

17 October 2017

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility (English)

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17 October 2017

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Benjamin S Jorge

1

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17 October 2017

Courtney M Campbell

2

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17 October 2017

Alison R Miller

3

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17 October 2017

Elizabeth D Rutter

4

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17 October 2017

Christina A Gurnett

5

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17 October 2017

Carlos G Vanoye

6

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17 October 2017

Alfred L George

7

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17 October 2017

Jennifer A Kearney

8

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17 October 2017

language of work or name

English

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publication date

14 March 2011

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17 October 2017

6

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Proceedings of the National Academy of Sciences of the United States of America

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published in

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17 October 2017

108

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17 October 2017

13

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17 October 2017

5443-5448

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Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Regulation of intrinsic excitability in hippocampal neurons by activity-dependent modulation of the KV2.1 potassium channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Genome-wide atlas of gene expression in the adult mouse brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Sodium channel mutations in epilepsy and other neurological disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Identification of the Kv2.1 K+ channel as a major component of the delayed rectifier K+ current in rat hippocampal neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Contrasting immunohistochemical localizations in rat brain of two novel K+ channels of the Shab subfamily

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Transgenic mice expressing beta-galactosidase in mature neurons under neuron-specific enolase promoter control

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

A novel K+ channel with unique localizations in mammalian brain: molecular cloning and characterization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

20 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1017539108

Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1017539108

Frequency-dependent regulation of rat hippocampal somato-dendritic excitability by the K+ channel subunit Kv2.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1017539108

Masking epilepsy by combining two epilepsy genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1017539108

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1017539108

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069171

The global burden of epilepsy

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21402906

12 December 2020

inferred from PubMed ID database lookup

Differential spatiotemporal expression of K+ channel polypeptides in rat hippocampal neurons developing in situ and in vitro

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21402906

12 December 2020

inferred from PubMed ID database lookup

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21402906

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.1017539108

1 reference

17 October 2017

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1 reference

17 October 2017

PubMed publication ID

21402906

1 reference