Auteurs
Milh M - Roubertoux P - Biba N - Chavany J - Spiga Ghata A - Fulachier C - Collins SC - Wagner C - Roux JC - Yalcin B - Félix MS - Molinari F - Lenck-Santini PP - Villard L
Journal
Epilepsia
Abstract
Early onset epileptic encephalopathy with suppression-burst is one of the most severe epilepsy phenotypes in human patients. A significant proportion of cases have a genetic origin, and the most frequently mutated gene is KCNQ2, encoding Kv7.2, a voltage-dependent potassium channel subunit, leading to so-called KCNQ2-related epileptic encephalopathy (KCNQ2-REE). To study the pathophysiology of KCNQ2-REE in detail and to provide a relevant preclinical model, we generated and described a knock-in mouse model carrying the recurrent p.(Thr274Met) variant.
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