(Q39887715)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19191339%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy (English)

1 reference

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20 January 2020

10

1 reference

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20 January 2020

Grégory Gauvain

2

1 reference

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20 January 2020

Jean Christophe Poncer

14

1 reference

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20 January 2020

author name string

Cécile Saint-Martin

1

1 reference

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20 January 2020

Georgeta Teodorescu

3

1 reference

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20 January 2020

Isabelle Gourfinkel-An

4

1 reference

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20 January 2020

Estelle Fedirko

5

1 reference

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20 January 2020

Yvonne G Weber

6

1 reference

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20 January 2020

Snezana Maljevic

7

1 reference

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20 January 2020

Jan-Peter Ernst

8

1 reference

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20 January 2020

Jennie Garcia-Olivares

9

1 reference

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20 January 2020

Rima Nabbout

11

1 reference

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20 January 2020

Eric LeGuern

12

1 reference

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20 January 2020

Holger Lerche

13

1 reference

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20 January 2020

Christel Depienne

15

1 reference

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20 January 2020

publication date

1 March 2009

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20 January 2020

1 reference

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20 January 2020

volume

30

1 reference

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20 January 2020

issue

3

1 reference

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20 January 2020

page(s)

397-405

1 reference

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Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

Properties of a hyperpolarization-activated cation current and its role in rhythmic oscillation in thalamic relay neurones

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

Removal of gating in voltage-dependent ClC-2 chloride channel by point mutations affecting the pore and C-terminus CBS-2 domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

JPCalc, a software package for calculating liquid junction potential corrections in patch-clamp, intracellular, epithelial and bilayer measurements and for correcting junction potential measurements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Excitatory actions of gaba during development: the nature of the nurture

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Epilepsies in twins: genetics of the major epilepsy syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Association between genetic variation of CACNA1H and childhood absence epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Functional and structural conservation of CBS domains from CLC chloride channels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

The role of the carboxyl terminus in ClC chloride channel function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Channelopathies in idiopathic epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Epidemiology of idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Molecular dissection of gating in the ClC-2 chloride channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

A common molecular basis for three inherited kidney stone diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Evaluation of the membrane-spanning domain of ClC-2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Genome search for susceptibility loci of common idiopathic generalised epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Differential expression of an inwardly rectifying chloride conductance in rat brain neurons: a potential mechanism for cell-specific modulation of postsynaptic inhibition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

The role of an inwardly rectifying chloride conductance in postsynaptic inhibition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

A chloride channel widely expressed in epithelial and non-epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Activity-dependent disinhibition. I. Repetitive stimulation reduces IPSP driving force and conductance in the hippocampus in vitro.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021

Familial clustering of seizure types within the idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20876

7 January 2021