A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.

Mathieu Milh Pierre RoubertouxNajoua BibaJulie ChavanyAdeline Spiga GhataCamille FulachierStephan Christopher CollinsChristel WagnerJean-Christophe RouxBinnaz YalcinMarie-Solenne FélixFlorence Molinari Pierre-Pascal Lenck-Santini Laurent Villard

Published in: Epilepsia (2020)

Taken together, our results indicate that we have generated a relevant model to study the pathophysiology of KCNQ2-related epileptic encephalopathy and perform preclinical research for that devastating and currently intractable disease.

Keyphrases

cognitive impairment
mouse model
early onset
stem cells
bone marrow
drug induced