Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.

@article{Bttger2003LossOK,
  title={Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.},
  author={Thomas C. B{\"o}ttger and Marco B. Rust and Hannes Maier and T. Seidenbecher and Michaela Schweizer and Damien J Keating and Joerg Faulhaber and Heimo Ehmke and Carsten Pfeffer and Olaf Scheel and Beate Lemcke and Juergen Horst and Rudolf Leuwer and H. Pape and Harald V{\"o}lkl and Christian Andreas H{\"u}bner and Thomas J Jentsch},
  journal={The EMBO journal},
  year={2003},
  volume={22 20},
  pages={5422-34}
}
K-Cl co-transporters are encoded by four homologous genes and may have roles in transepithelial transport and in the regulation of cell volume and cytoplasmic chloride. KCC3, an isoform mutated in the human Anderman syndrome, is expressed in brain, epithelia and other tissues. To investigate the physiological functions of KCC3, we disrupted its gene in mice. This severely impaired cell volume regulation as assessed in renal tubules and neurons, and moderately raised intraneuronal Cl… CONTINUE READING
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