1. Academic Validation
  2. A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy

  • Neurobiol Dis. 2006 Nov;24(2):245-53. doi: 10.1016/j.nbd.2006.07.001.
Baljinder Singh 1 Ikuo Ogiwara Makoto Kaneda Natsuko Tokonami Emi Mazaki Koichi Baba Kazumi Matsuda Yushi Inoue Kazuhiro Yamakawa
Affiliations

Affiliation

  • 1 Laboratory for Neurogenetics, RIKEN Brain Science Institute, Saitama 351-0198, Japan.
Abstract

Temporal lobe epilepsy (TLE) has a multifactorial etiology involving developmental, environmental, and genetic components. Here, we report a voltage-gated Potassium Channel gene mutation found in a TLE patient, namely a Kv4.2 truncation mutation. Kv4.2 channels, encoded by the KCND2 gene, mediate A currents in the brain. The identified mutation corresponds to an N587fsX1 amino acid change, predicted to produce a truncated Kv4.2 protein lacking the last 44 Amino acids in the carboxyl terminal. Electrophysiological analysis indicates attenuated K+ current density in cells expressing this Kv4.2-N587fsX1 mutant channel, which is consistent with a model of aberrant neuronal excitability characteristic of TLE. Our observations, together with Other lines of evidence, raise the intriguing possibility of a role for KCND2 in the etiology of TLE.

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