De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M. Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)220-229
Number of pages10
JournalEuropean Journal of Human Genetics
Volume26
Issue number2
DOIs
Publication statusPublished - 1 Feb 2018

Keywords

  • CHINESE GENEID POPULATION
  • ATRIAL-FIBRILLATION
  • LARGE-CONDUCTANCE
  • DENTATE GYRUS
  • K+ CHANNEL
  • IDENTIFICATION
  • ACTIVATION
  • PAXILLINE
  • NA(V)1.5
  • MUTATION

Cite this

Li, X., Poschmann, S., Chen, Q., Fazeli, W., Oundjian, N. J., Snoeijen-Schouwenaars, F. M., Fricke, O., Kamsteeg, E-J., Willemsen, M., & Wang, Q. K. (2018). De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. European Journal of Human Genetics, 26(2), 220-229. https://doi.org/10.1038/s41431-017-0073-3