BiophysicsbioRxiv
De novo BK channel mutation causes epilepsy by regulating voltage-dependent, but not calcium-dependent, activation
Q. K. Wang, M. Willemsen, X. Li…·E.-J. Kamsteeg
This study identifies a de novo BK channel mutation causing epilepsy by enhancing voltage-dependent activation, while not affecting calcium sensitivity.
DOI 10.1038/s41431-017-0073-3