De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures-Reference-Cited by-同舟云学术

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

Published:2016-01-28 Issue:5 Volume:61 Page:381-387
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Fukai Ryoko,Saitsu Hirotomo^ORCID,Tsurusaki Yoshinori,Sakai Yasunari,Haginoya Kazuhiro,Takahashi Kazumasa,Hubshman Monika Weisz,Okamoto Nobuhiko,Nakashima Mitsuko,Tanaka Fumiaki,Miyake Noriko,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg20161.pdf

Reference23 articles.

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2. Miceli, F., Soldovieri, M. V., Ambrosino, P., De Maria, M., Manocchio, L., Medoro, A. et al. Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels. Front Cell Neurosci. 9, 259 (2015).

3. Pardo, L. A., del Camino, D., Sánchez, A., Alves, F., Brüggemann, A., Beckh, S. et al. Oncogenic potential of EAG K(+) channels. EMBO J. 18, 5540–5547 (1999).

4. Haitin, Y., Carlson, A. E. & Zagotta, W. N. The structural mechanism of KCNH-channel regulation by the eag domain. Nature 501, 444–448 (2013).

5. Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J. et al. A potassium channel mutation in neonatal human epilepsy. Science 279, 403–406 (1998).

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