Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

2012 ◽  
Vol 76 (4) ◽  
pp. 326-331 ◽  
Author(s):  
Birgit Krabichler ◽  
Kevin Rostasy ◽  
Matthias Baumann ◽  
Daniela Karall ◽  
Sabine Scholl-Bürgi ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Novel Mutation ◽  
Myoclonic Epilepsy ◽  
Related Gene ◽  
Progressive Myoclonic Epilepsy

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

2007 ◽  
Vol 61 (6) ◽  
pp. 579-586 ◽  
Author(s):  
Patrick Van Bogaert ◽  
Regis Azizieh ◽  
Julie Désir ◽  
Alec Aeby ◽  
Linda De Meirleir ◽  
...  
Keyword(s):  
Potassium Channel ◽  
Myoclonic Epilepsy ◽  
Related Gene ◽  
Progressive Myoclonic Epilepsy

scholarly journals Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia

2018 ◽  
Vol 5 (3) ◽  
pp. 330-332 ◽  
Author(s):  
Clécio de Oliveira Godeiro Junior ◽  
Thiago Cardoso Vale ◽  
Cintia Oliveira de Melo Afonso ◽  
Fernando Kok ◽  
José Luiz Pedroso ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy

How to Fluorescently Label the Potassium Channel: A Case in hERG

2020 ◽  
Vol 27 (18) ◽  
pp. 3046-3054
Author(s):  
Xiaomeng Zhang ◽  
Beilei Wang ◽  
Zhenzhen Liu ◽  
Yubin Zhou ◽  
Lupei Du
Keyword(s):  
Potassium Channel ◽  
Herg Channel ◽  
Pore Channel ◽  
Design Rationale ◽  
Related Gene ◽  
Open Conformation ◽  
Cardiac Action ◽  
Qt Syndrome ◽  
Herg Channels ◽  
Action Potential Repolarization

hERG (Human ether-a-go-go-related gene) potassium channel, which plays an essential role in cardiac action potential repolarization, is responsible for inherited and druginduced long QT syndrome. Recently, the Cryo-EM structure capturing the open conformation of hERG channel was determined, thus pushing the study on hERG channel at 3.8 Å resolution. This report focuses primarily on summarizing the design rationale and application of several fluorescent probes that target hERG channels, which enables dynamic and real-time monitoring of potassium pore channel affinity to further advance the understanding of the channels.

scholarly journals Treatment of Progressive Myoclonic Epilepsy with Mephenesin

BMJ ◽  
1955 ◽  
Vol 1 (4911) ◽  
pp. 456-458 ◽  
Author(s):  
R. E. Kelly ◽  
D. R. Laurence
Keyword(s):  
Myoclonic Epilepsy ◽  
Progressive Myoclonic Epilepsy
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