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*

*Corresponding author for this work

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

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