Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13) (Q24299351)

potassium ion transmembrane transport

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

spinocerebellar ataxia

1 reference

Karla P Figueroa

1

0 references

Michael F Waters

2

0 references

Vartan Garibyan

3

0 references

Thomas D Bird

4

0 references

Christopher M Gomez

5

0 references

Laura P W Ranum

6

0 references

Natali A Minassian

7

0 references

Diane M Papazian

8

0 references

Stefan M Pulst

Creative Commons CC0 License

9

0 references

language of work or name

English

0 references

publication date

2011

0 references

published in

PLOS One

0 references

volume

6

0 references

issue

3

0 references

page(s)

e17811

0 references

copyright license

start time

29 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Spectrin mutations cause spinocerebellar ataxia type 5.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Kv3.3 potassium channels in lens epithelium and corneal endothelium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Overexcited or inactive: ion channels in muscle disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3066194

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma

27 September 2017

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017811

Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017811

Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017811

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017811

Genetic background of apparently idiopathic sporadic cerebellar ataxia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21479265

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21479265