A novel KCNQ2 K+channel mutation in benign neonatal convulsions and centrotemporal spikes

Neurology ◽  
2003 ◽  
Vol 61 (1) ◽  
pp. 131-134 ◽  
Author(s):  
G. Coppola ◽  
P. Castaldo ◽  
E. Miraglia del Giudice ◽  
G. Bellini ◽  
F. Galasso ◽  
...  
Keyword(s):  
K Channel ◽  
Neonatal Convulsions ◽  
Channel Mutation

Molecular analysis of a mutation in the S5-H5 linker of the KCNQ2 K+ channel causing neonatal convulsions

2006 ◽  
Vol 33 (S 1) ◽  
Author(s):  
G. Naros ◽  
O. Yalcin ◽  
S. Maljevic ◽  
T.V. Wuttke ◽  
A. Dervent ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
K Channel ◽  
Neonatal Convulsions

The N588K-HERG K+ channel mutation in the ‘short QT syndrome’: Mechanism of gain-in-function determined at 37°C

2005 ◽  
Vol 334 (2) ◽  
pp. 441-449 ◽  
Author(s):  
Mark J. McPate ◽  
Rona S. Duncan ◽  
James T. Milnes ◽  
Harry J. Witchel ◽  
Jules C. Hancox
Keyword(s):  
K Channel ◽  
Short Qt Syndrome ◽  
Channel Mutation ◽  
Qt Syndrome

scholarly journals KCNC3R420H, a K+ channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking

2014 ◽  
Vol 71 ◽  
pp. 270-279 ◽  
Author(s):  
Carolina Gallego-Iradi ◽  
Justin S. Bickford ◽  
Swati Khare ◽  
Alexis Hall ◽  
Jerelyn A. Nick ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Intracellular Trafficking ◽  
K Channel ◽  
Channel Mutation

scholarly journals Functional Analysis of a Migraine-Associated TRESK K+ Channel Mutation

2013 ◽  
Vol 33 (31) ◽  
pp. 12810-12824 ◽  
Author(s):  
P. Liu ◽  
Z. Xiao ◽  
F. Ren ◽  
Z. Guo ◽  
Z. Chen ◽  
...  
Keyword(s):  
Functional Analysis ◽  
K Channel ◽  
Channel Mutation
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