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

Autor: 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

Publikováno v: In Neurobiology of Disease August 2015 80:80-92

A KCNQ2 variant causing Early Onset Epileptic Encephalopathy increases spontaneous network-driven activity and excitability of pyramidal cells in the layer II/III and V of the motor cortex during a limited period of development

Autor: Biba, Najoua, Kurz, Marie, Villard, Laurent, Milh, Mathieu, Becq, Helene, Aniksztejn, Laurent

De novo variants in the KCNQ2 gene encoding the Kv7.2 subunit of the voltage-gated potassium Kv7/M channel are the main cause of Early Onset Epileptic Encephalopathy (EOEE) with suppression burst suggesting that this channel plays an important role f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=sharebioRxiv::0fb7f575b0610afafacc4f570f9cd1a3

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation

Autor: Goubert, Emmanuelle, Mircheva, Yanina, Lasorsa, Francesco, Melon, Christophe, Profilo, Emanuela, Sutera, Julie, Becq, Hélène, Palmieri, Ferdinando, Palmieri, Luigi, Aniksztejn, Laurent, Molinari, Florence

Publikováno v: Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience, 2017, 11, pp.149. ⟨10.3389/fncel.2017.00149⟩
Frontiers in Cellular Neuroscience, Frontiers, 2017, 11, pp.149. ⟨10.3389/fncel.2017.00149⟩

International audience; The solute carrier family 25 (SLC25) drives the import of a large diversity of metabolites into mitochondria, a key cellular structure involved in many metabolic functions. Mutations of the mitochondrial glutamate carrier SLC2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::51471d3c7d86745ab55c4a2ae8570604
https://hal.science/hal-01961870