Topic: C60

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

Dravet Syndrome is a developmental and epileptic encephalopathy, with intractable seizures and other comorbidities; due to loss of function variants in SCN1A, the disease mostly manifests because of the impairment of the functionality of inhibitory interneurons. Trying to address the unmet clinical needs of patients carrying missense variants, we used a transgenic mouse model carrying the recurrent variant p.(Ala1783Val) in Scn1a. This mouse closely recapitulates the clinical phenotype, allowing to more deeply explore the epileptogenesis and find new precision medicine approaches.We carried ou