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

doi:10.1038/s41431-017-0073-3

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 journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	220-229
Number of pages	10
Journal	European Journal of Human Genetics
Volume	26
Issue number	2
DOIs	https://doi.org/10.1038/s41431-017-0073-3
Publication status	Published - 1 Feb 2018

Keywords

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

Access to Document

10.1038/s41431-017-0073-3

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

Li, Xia ; Poschmann, Sibylle ; Chen, Qiuyun ; Fazeli, Walid ; Oundjian, Nelly Jouayed ; Snoeijen-Schouwenaars, Francesca M. ; Fricke, Oliver ; Kamsteeg, Erik-Jan ; Willemsen, Marjolein ; Wang, Qing Kenneth. / De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. In: European Journal of Human Genetics. 2018 ; Vol. 26, No. 2. pp. 220-229.

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

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

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

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doi = "10.1038/s41431-017-0073-3",

language = "English",

volume = "26",

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journal = "European Journal of Human Genetics",

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De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity. / Li, Xia; Poschmann, Sibylle; Chen, Qiuyun; Fazeli, Walid; Oundjian, Nelly Jouayed; Snoeijen-Schouwenaars, Francesca M.; Fricke, Oliver; Kamsteeg, Erik-Jan; Willemsen, Marjolein; Wang, Qing Kenneth.

In: European Journal of Human Genetics, Vol. 26, No. 2, 01.02.2018, p. 220-229.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

AU - Li, Xia

AU - Poschmann, Sibylle

AU - Chen, Qiuyun

AU - Fazeli, Walid

AU - Oundjian, Nelly Jouayed

AU - Snoeijen-Schouwenaars, Francesca M.

AU - Fricke, Oliver

AU - Kamsteeg, Erik-Jan

AU - Willemsen, Marjolein

AU - Wang, Qing Kenneth

PY - 2018/2/1

Y1 - 2018/2/1

KW - CHINESE GENEID POPULATION

KW - ATRIAL-FIBRILLATION

KW - LARGE-CONDUCTANCE

KW - DENTATE GYRUS

KW - K+ CHANNEL

KW - IDENTIFICATION

KW - ACTIVATION

KW - PAXILLINE

KW - NA(V)1.5

KW - MUTATION

U2 - 10.1038/s41431-017-0073-3

DO - 10.1038/s41431-017-0073-3

M3 - Article

VL - 26

SP - 220

EP - 229

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 2

ER -