Article
A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.
Neurobiology of disease - 1 Nov 2006
Singh Baljinder, Ogiwara Ikuo, Kaneda Makoto, Tokonami Natsuko, Mazaki Emi, Baba Koichi, Matsuda Kazumi, Inoue Yushi, Yamakawa Kazuhiro
Abstract excerpt
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...
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