(Q36870065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

5

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Carla Marini

4

0 references

author name string

Tim T Chen

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Tara L Klassen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Alica M Goldman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

English

0 references

publication date

13 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

1078-1085

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Presynaptic CLC-3 determines quantal size of inhibitory transmission in the hippocampus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Cardiac arrhythmia and thyroid dysfunction: a novel genetic link

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride 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=3662306

A method for automated detection of gene expression required for the establishment of a digital transcriptome-wide gene expression atlas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Heteromultimeric CLC chloride channels with novel properties

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Primary structure and functional expression of a developmentally regulated skeletal muscle chloride 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=3662306

The skeletal muscle chloride channel in dominant and recessive human myotonia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Novel chloride channel mutations leading to mild myotonia among Chinese

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Phorbol esters block a voltage-sensitive chloride current in hippocampal pyramidal cells

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Comprehensive expression atlas of fibroblast growth factors and their receptors generated by a novel robotic in situ hybridization platform.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Altered GABAergic function accompanies hippocampal degeneration in mice lacking ClC-3 voltage-gated chloride channels

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

The role of an inwardly rectifying chloride conductance in postsynaptic inhibition

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662306

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

4 December 2018

1 reference

12 December 2020

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

1 reference

12 December 2020

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

1 reference

12 December 2020

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

1 reference

12 December 2020

Dosage effect of a dominant CLCN1 mutation: a novel syndrome

1 reference

12 December 2020

10.1212/WNL.0B013E31828868E7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23408874%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

23408874

1 reference