Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study (Q30632834)

25 June 2017

title

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study (English)

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25 June 2017

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18

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11

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Frédéric Darios

Frédéric Darios

10

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Cengiz Yalcinkaya

Cengiz Yalcinkaya

16

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Adeline Vanderver

Adeline Vanderver

14

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Nicole I Wolf

Nicole I Wolf

22

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Graziella Uziel

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Graziella Uziel

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Christel Depienne

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Marjo S van der Knaap

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Damien Galanaud

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Valérie Touitou

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Christine De Die-Smulders

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12

Christine E de Die-Smulders

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Frédéric Sedel

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Céline Dupuits

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Truus Em Abbink

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Nienke Postma

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Emiel Polder

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Marianna Bugiani

2

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Carola van Berkel

7

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Eleonore Tollard

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Johannes S Vles

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Suzanna G Frints

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Jan Klooster

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Maarten Kamermans

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publication date

22 May 2013

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volume

12

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issue

7

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page(s)

659-668

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cites work

Chloride channelopathies

1 reference

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

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/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Molecular dissection of gating in the ClC-2 chloride channel

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

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/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

ClC-2 voltage-gated channels constitute part of the background conductance and assist chloride extrusion.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

ClC-2 channels regulate neuronal excitability, not intracellular chloride levels

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

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7 January 2021

CLCN2 variants in idiopathic generalized epilepsy

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.

1 reference

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7 January 2021

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

1 reference

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7 January 2021

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

1 reference

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7 January 2021

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

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7 January 2021

Invited article: an MRI-based approach to the diagnosis of white matter disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Assessment of myelination in hypomyelinating disorders by quantitative MRI.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Diffusion-weighted MR imaging in leukodystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Water transport between CNS compartments: functional and molecular interactions between aquaporins and ion channels

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Persistent CNS dysfunction in a boy with CMT1X.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

MLC1: a novel protein in distal astroglial processes

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

Childhood white matter disorders: quantitative MR imaging and spectroscopy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970053-X

7 January 2021

10.1016/S1474-4422(13)70053-X

Identifiers

DOI

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25 June 2017

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