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Topic: epileptic encephalopathies

ePoster
1 ePoster

In Neuroscience

RNA-based strategies to rescue inhibition as potential treatment for GABRA1-dependent epilepsy

Sara Nencini, Martina Bruno, Stefano Gustincich, Dario Tascio, Enrica Petrini, Andrea Barberis · FENS Forum 2024

Newly discovered group of natural antisense long non-coding RNAs, known as SINEUPs, exhibits the ability to ameliorate defective gene expression by enhancing mRNA translation. A subgroup of severe and drug resistant forms of epileptic encephalopathies (EEs) have been associated to the haploinsufficiency of the GABRA1 gene that, by coding for the α1 subunit of the main inhibitory synaptic receptor, leads to impaired GABAergic inhibition. By taking advantage of a heterozygous α1 knock-out mouse model of epilepsy (het-α1 KO), we exploit SINEUP approach to restore GABAergic inhibitory deficits. Co

ePoster · Neuroscience