Chloride channelopathies, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1792, issue.3, pp.173-89, 2009. ,
DOI : 10.1016/j.bbadis.2009.02.002
URL : https://hal.archives-ouvertes.fr/hal-00501604
A chloride channel widely expressed in epithelial and non-epithelial cells, Nature, vol.356, issue.6364, pp.57-60, 1992. ,
DOI : 10.1038/356057a0
Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume, Nature, vol.360, issue.6406, pp.759-62, 1992. ,
DOI : 10.1038/360759a0
Molecular dissection of gating in the ClC-2 chloride channel, The EMBO Journal, vol.16, issue.7, pp.1582-92, 1997. ,
DOI : 10.1093/emboj/16.7.1582
Male germ cells and photoreceptors, both dependent on close cell???cell interactions, degenerate upon ClC-2 Cl??? channel disruption, The EMBO Journal, vol.20, issue.6, pp.1289-99, 2001. ,
DOI : 10.1093/emboj/20.6.1289
Leukoencephalopathy upon Disruption of the Chloride Channel ClC-2, Journal of Neuroscience, vol.27, issue.24, pp.6581-6590, 2007. ,
DOI : 10.1523/JNEUROSCI.0338-07.2007
Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus, Neuroscience, vol.101, issue.1, pp.51-65, 2000. ,
DOI : 10.1016/S0306-4522(00)00360-2
Differential expression of an inwardly rectifying chloride conductance in rat brain neurons: a potential mechanism for cell-specific modulation of postsynaptic inhibition, J Neurosci, vol.15, issue.5 2, pp.4057-67, 1995. ,
ClC-2 Voltage-Gated Channels Constitute Part of the Background Conductance and Assist Chloride Extrusion, Journal of Neuroscience, vol.30, issue.13, pp.4776-86, 2010. ,
DOI : 10.1523/JNEUROSCI.6299-09.2010
ClC-2 Channels Regulate Neuronal Excitability, Not Intracellular Chloride Levels, Journal of Neuroscience, vol.31, issue.44, pp.15838-15881, 2011. ,
DOI : 10.1523/JNEUROSCI.2748-11.2011
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies, Nature Genetics, vol.33, issue.4, pp.527-559, 2003. ,
DOI : 10.1038/ng1121
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy, Neurology, vol.63, issue.8, pp.1500-1502, 2004. ,
DOI : 10.1212/01.WNL.0000142093.94998.1A
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes, Neurogenetics, vol.17, issue.4, pp.265-273, 2006. ,
DOI : 10.1007/s10048-006-0057-x
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy, Epilepsy Research, vol.75, issue.2-3, pp.2-3145, 2007. ,
DOI : 10.1016/j.eplepsyres.2007.05.004
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy, Hum Mutat, 2009. ,
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy, Brain Research Bulletin, vol.79, issue.2, pp.89-96, 2009. ,
DOI : 10.1016/j.brainresbull.2009.01.008
CLCN2 variants in idiopathic generalized epilepsy, Nature Genetics, vol.41, issue.9, pp.954-959, 2009. ,
DOI : 10.1002/humu.20876
Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies, Nature Genetics, vol.41, issue.9, 2009. ,
DOI : 10.1038/ng1121
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy, Nature Genetics, vol.1792, issue.1, p.3, 2010. ,
DOI : 10.1080/10409230701829110
Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children, Annals of Neurology, vol.241, issue.3, pp.324-358, 1995. ,
DOI : 10.1002/ana.410370308
Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course, Acta Neuropathologica, vol.92, issue.2, pp.206-218, 1996. ,
DOI : 10.1007/s004010050510
Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis, The Lancet Neurology, vol.11, issue.11, 2012. ,
DOI : 10.1016/S1474-4422(12)70192-8
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. A m J H u m Genet, pp.831-839, 2001. ,
Megalencephalic leukoencephalopathy with cysts without MLC1 defect, Ann Neurol, vol.67, issue.6, pp.834-841, 2010. ,
as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts, Genetic Testing and Molecular Biomarkers, vol.14, issue.2, pp.255-262, 2010. ,
DOI : 10.1089/gtmb.2009.0148
Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism, The American Journal of Human Genetics, vol.88, issue.4, pp.422-454, 2011. ,
DOI : 10.1016/j.ajhg.2011.02.009
GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl??? Channel Auxiliary Subunit, Neuron, vol.73, issue.5, pp.951-61, 2012. ,
DOI : 10.1016/j.neuron.2011.12.039
Defining and Categorizing Leukoencephalopathies of Unknown Origin: MR Imaging Approach, Radiology, vol.213, issue.1, pp.121-154, 1999. ,
DOI : 10.1148/radiology.213.1.r99se01121
Invited Article: An MRI-based approach to the diagnosis of white matter disorders, Neurology, vol.72, issue.8, pp.750-759, 2009. ,
DOI : 10.1212/01.wnl.0000343049.00540.c8
Assessment of myelination in hypomyelinating disorders by quantitative MRI, J Magn Reson Imaging, 2012. ,
Diffusion-weighted MR imaging in leukodystrophies, European Radiology, vol.16, issue.Suppl 2, pp.2284-303, 2005. ,
DOI : 10.1007/s00330-005-2846-2
Water transport between CNS compartments: functional and molecular interactions between aquaporins and ion channels, Neuroscience, vol.168, issue.4, pp.926-966, 2010. ,
DOI : 10.1016/j.neuroscience.2009.12.017
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, Neuroscience, vol.168, issue.4, pp.982-1008, 2010. ,
DOI : 10.1016/j.neuroscience.2009.10.028
Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination, J Neurosci, vol.21, issue.15, pp.5429-5467, 2001. ,
Genetic and Physiological Evidence That Oligodendrocyte Gap Junctions Contribute to Spatial Buffering of Potassium Released during Neuronal Activity, Journal of Neuroscience, vol.26, issue.43, pp.10984-91, 2006. ,
DOI : 10.1523/JNEUROSCI.0304-06.2006
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease, Annals of Neurology, vol.31, issue.4, pp.429-463, 2002. ,
DOI : 10.1002/ana.10305
Persistent CNS dysfunction in a boy with CMT1X, Journal of the Neurological Sciences, vol.279, issue.1-2, pp.109-122, 2009. ,
DOI : 10.1016/j.jns.2008.12.031
MLC1: A Novel Protein in Distal Astroglial Processes, Journal of Neuropathology & Experimental Neurology, vol.64, issue.5, pp.412-421, 2005. ,
DOI : 10.1093/jnen/64.5.412
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation, Brain, vol.134, issue.11, pp.3342-54, 2011. ,
DOI : 10.1093/brain/awr255
Childhood White Matter Disorders: Quantitative MR Imaging and Spectroscopy, Radiology, vol.241, issue.2, pp.510-517, 2006. ,
DOI : 10.1148/radiol.2412051345
Validation of the ClC-2 antibodies in fluorescent immunohistochemistry ,
A) and SC-20122 (B) show immunoreactivity (green) in GFAP + astrocytic processes (red) in the brain, whereas HPA24108 (C) does not. A normal rabbit IgG isotype control (D) does not show immunoreactivity in astrocytes either. E and F show a blocking experiment in which the GTX113403 antibody was preincubated with its antigen (F) or only serum (E) Nuclei are stained with DAPI (blue) Original agnifications, pp.400-422, 113403. ,
ClC-2, GlialCAM and MLC1 at blood-brain and cerebrospinal fluid-brain barriers ,
Schematic view of action potential-driven potassium and water fluxes With each depolarization, sodium ions (Na + ) enter the axon at nodes of Ranvier. The compensatory exit of potassium ions (K + ) occurs at the paranodal axonal plasma membrane. K + and water pass through successive layers of myelin and enter the astrocytic syncytium via gap junctions, constituted by connexin32 (Cx32) and connexin47 (Cx47) The locations of ClC-2, MLC1, GlialCAM, the water channel aquaporin-4 (AQP4), the potassium channel Kir4.1 and the connexins are indicated by their respective symbols. Drawing by Dr. G.C. Scheper, modified from Rash 10 and van der Knaap 11 with permission, p.25 ,
Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, vol.25, issue.14, pp.1754-60, 2009. ,
DOI : 10.1093/bioinformatics/btp324
The Sequence Alignment/Map format and SAMtools, Bioinformatics, vol.25, issue.16, pp.2078-2087, 2009. ,
DOI : 10.1093/bioinformatics/btp352
mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy, Human Mutation, vol.572, issue.Pt 1, pp.397-405, 2009. ,
DOI : 10.1002/humu.20876
as Candidate Gene for Megalencephalic Leukoencephalopathy with Subcortical Cysts, Genetic Testing and Molecular Biomarkers, vol.14, issue.2, pp.255-262, 2010. ,
DOI : 10.1089/gtmb.2009.0148
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways, Biochemical Journal, vol.450, issue.2, pp.345-50, 2013. ,
DOI : 10.1093/emboj/18.22.6532
Visible fluorescent detection of proteins in polyacrylamide gels without staining13-20. 7. van den Pol AN, Gorcs T. Synaptic relationships between neurons containing vasopressin, gastrin-releasing peptide, vasoactive intestinal polypeptide, and glutamate decarboxylase immunoreactivity in the suprachiasmatic nucleus: dual ultrastructural immunocytochemistry with gold-substituted silver peroxidase, Anal Biochem J Comp Neurol, vol.326252, issue.14, pp.507-528, 1986. ,
X-ray structure of a ClC chloride channel at 3.0?????? reveals the molecular basis of anion selectivity, Nature, vol.415, issue.6869, pp.287-94, 2002. ,
DOI : 10.1038/415287a
Rapid recycling of ClC-2 chloride channels between plasma membrane and endosomes: Role of a tyrosine endocytosis motif in surface retrieval, Journal of Cellular Physiology, vol.555, issue.3, pp.650-657, 2009. ,
DOI : 10.1002/jcp.21900
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. Neuroscience Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis, Lancet Neurol, vol.16811, issue.1111, pp.982-1008973, 2010. ,