Characterization of the pathophysiological mechanisms of KCNQ2-developmental and epileptic encephalopathy (KCNQ2-DEE) in the KV7.2Thr274Met/+ mouse model
Shaimaa Haiba, Kilian Lüdicke, Laurent Villard, Maurizio Taglialatela, Carmine Ostacolo, Holger Lerche, Thomas V. Wuttke · FENS Forum 2024
The image shows the morphology of pyramidal neuron filled with biocytin during the recording from mutant cell.This study focuses on understanding the pathophysiological mechanisms of KCNQ-DEE, a severe form of neonatal epilepsy associated with variants in genes of the KCNQ family. KCNQ genes encode subunits of KV7 voltage-gated potassium channels. Each channel is formed by four subunits and particularly heterotetrametric KV7.2/KV7.3 or KV7.5/KV7.3 channels, carrying the so-called M-current, play a crucial role in modulating neuronal excitability in the central nervous system. Most pathogenic v
ePoster · Neuroscience