A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Mutations in the KCNQ2 gene encoding the voltage-dependent potassium M channel Kv7.2 subunit cause either benign epilepsy or early onset epileptic encephalopathy (EOEE). It has been proposed that the disease severity rests on the inhibitory impact of mutations on M current density. Here, we have ana...

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Bibliographic Details
Main Authors: Affef Abidi, Jérôme J. Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine De La Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaetan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn
Format: Article
Language:English
Published: Elsevier 2015-08-01
Series:Neurobiology of Disease
Subjects:
Early epileptic encephalopathy
Kv7 channels
M-current
p.A294V mutation
p.A294G mutation
Subcellular channel expression
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115001734

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http://www.sciencedirect.com/science/article/pii/S0969996115001734

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