Concepedia

Novel brain expression of ClC-1 chloride channels and enrichment of <i>CLCN1</i> variants in epilepsy

Tim T. Chen, Tara Klassen, Alica M. Goldman, Carla Marini, Renzo Guerrini, Jeffrey L. Noebels

Neurology · 2013 · 47 citations · 31 references

DOIFull text

Open access

Abstract

Our findings support a possible comorbid contribution of the "skeletal" chloride channel ClC-1 to the regulation of brain excitability and the need for further elucidation of the roles of CLCN genes in neuronal network excitability disorders.

References

31

Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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

Kazuki Yasuda, Kazuaki Miyake, Yukio Horikawa et al. · Nature Genetics · 2008 · 766 citations

, , +7

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Manuela C. Koch, Klaus Steinmeyer, C Lorenz et al. · Science · 1992 · 712 citations

, , +21

Disruption of ClC-3, a Chloride Channel Expressed on Synaptic Vesicles, Leads to a Loss of the Hippocampus

Sandra M. Stobrawa, Tilman Breiderhoff, Shigeo Takamori et al. · Neuron · 2001 · 506 citations · Full text

, , +12

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

Klaus Steinmeyer, Christoph Ortland, Thomas J. Jentsch · Nature · 1991 · 437 citations

, , +10