Article
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Neurobiology of disease - 1 Aug 2015
Abidi Affef, Devaux Jérôme J, Molinari Florence, Alcaraz Gisèle, Michon François-Xavier, Sutera-Sardo Julie, Becq Hélène, Lacoste Caroline, Altuzarra Cécilia, Afenjar Alexandra, Mignot Cyril, Doummar Diane, Isidor Bertrand, Guyen Sylvie N, Colin Estelle, De La Vaissière Sabine, Haye Damien, Trauffler Adeline, Badens Catherine, Prieur Fabienne, Lesca Gaetan, Villard Laurent, Milh Mathieu, Aniksztejn Laurent
Abstract excerpt
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...
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