De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

@article{Fukai2016DeNK,
  title={De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures},
  author={Ryoko Fukai and Hirotomo Saitsu and Yoshinori Tsurusaki and Yasunari Sakai and Kazuhiro Haginoya and Kazumasa Takahashi and Monika Weisz Hubshman and Nobuhiko Okamoto and Mitsuko Nakashima and Fumiaki Tanaka and Noriko Miyake and Naomichi Matsumoto},
  journal={Journal of Human Genetics},
  year={2016},
  volume={61},
  pages={381-387}
}
The voltage-gated Kv10.1 potassium channel, also known as ether-a-go-go-related gene 1, encoded by KCNH1 (potassium voltage-gated channel, subfamily H (eag related), member 1) is predominantly expressed in the central nervous system. Recently, de novo missense KCNH1 mutations have been identified in six patients with Zimmermann–Laband syndrome and in four patients with Temple–Baraitser syndrome. These syndromes were historically considered distinct. Here we report three de novo missense KCNH1… CONTINUE READING