Associated Papers
The noncausal association between a loss-of-function CLCN2 variant and childhood absence epilepsy.
Li W et al.
Genomics, 2025
Cryo-EM structures of ClC-2 chloride channel reveal the blocking mechanism of its specific inhibitor AK-42.
Ma T et al.
Nature Communications, 2023
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
CLC channel function and dysfunction in health and disease.
Stölting G et al.
Frontiers in Physiology, 2014
Regulation of ClC-2 gating by intracellular ATP.
Stölting G et al.
Pflugers Archiv : European Journal of Physiology, 2013
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Niemeyer MI et al.
Nature Genetics, 2010
CLCN2 variants in idiopathic generalized epilepsy.
Kleefuss-Lie A et al.
Nature Genetics, 2009
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
Saint-Martin C et al.
Human Mutation, 2009
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Chloride channelopathies.
Planells-Cases R et al.
Biochimica Et Biophysica Acta, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
ATP depletion inhibits the endocytosis of ClC-2.
Dhani SU et al.
Journal of Cellular Physiology, 2008
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Everett K et al.
Epilepsy Research, 2007
Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue.
Bertelli M et al.
Biochimica Et Biophysica Acta, 2007
CLC chloride channels and transporters: a biophysical and physiological perspective.
Zifarelli G et al.
Reviews of Physiology, Biochemistry and Pharmacology, 2007
Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.
Paul J et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2007
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Stogmann E et al.
Neurogenetics, 2006
Role of intramolecular and intermolecular interactions in ClC channel and transporter function.
Dhani SU et al.
Pflugers Archiv : European Journal of Physiology, 2006
CBS domains: structure, function, and pathology in human proteins.
Ignoul S et al.
American Journal of Physiology. Cell Physiology, 2005
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J et al.
Human Molecular Genetics, 2005
Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.
Bennetts B et al.
The Journal of Biological Chemistry, 2005
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J et al.
Human Molecular Genetics, 2005
Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels.
Hebeisen S et al.
Biophysical Journal, 2005
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
D'Agostino D et al.
Neurology, 2004
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.
Niemeyer MI et al.
Physiological Genomics, 2004
Inherited Channelopathies Associated with Epilepsy.
George AL
Epilepsy Currents, 2004
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
Scott JW et al.
The Journal of Clinical Investigation, 2004
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug K et al.
Nature Genetics, 2003