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

Baljinder Singh, Ikuo Ogiwara, Makoto Kaneda, Natsuko Tokonami, Emi Mazaki, Koichi Baba, Kazumi Matsuda, Yushi Inoue, Kazuhiro Yamakawa

Neurobiol. Dis., 2006 Nov , 24, 245-53

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.

http://www.ncbi.nlm.nih.gov/pubmed/16934482