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Time-limited alterations in cortical activity of a Knock-in mice model of KCNQ2- related Developmental and Epileptic Encephalopathy

Archive ouverte | Biba, Najoua | CCSD

Abstract De novo missense variants in the KCNQ2 gene encoding the Kv7.2 subunit of the voltage-gated potassium Kv7/M channel are the main cause of Developmental and Epileptic Encephalopathy (DEE). KCNQ2 related-DEE is characterize...

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

Archive ouverte | Devaux, Jérôme | CCSD

International audience. Mutations in the KCNQ2 gene encoding the voltage-gated potassium channel subunit Kv7.2 cause early onset epileptic encephalopathy (EOEE). Most mutations have been shown to induce a loss of fu...

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

Archive ouverte | Abidi, Affef | CCSD

International audience. 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 ...

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