02359nam 2200241 n 450 TD18029189TDMAGDIG20190501d2017------k--ita-50----ba enNext Generation Sequencing in rare childhood epilepsy of suspected genetic etiologyTesi di dottoratoUniversita' degli studi di Sassari2017In relazione con http://eprints.uniss.it/11602/tesi di dottoratoMED/39 Neuropsichiatria infantileUniversita' degli studi di SassariMutations in several genes are associated with epilepsy (e.g. SCN1A, MECP2, ARX). Identifying genetic causes in epileptic syndromes is crucial to avoid a complex diagnostic work up, to provide genetic counseling, to start a tailored treatment in some cases and to avoid drugs potentially worsening seizures in others.<br/> Next Generation Sequencing (NGS) technologies allow analyzing a large number of genes in a single experiment, shortening the time to reach a definite diagnosis, and saving costs.<br/> Aim of this research was to identify gene variants underlying epilepsies with a challenging etiological classification. DNA from 81 pediatric epileptic patients was analyzed with a gene panel set up by child epileptologists, neurophysiologists and geneticists. This included 55 genes, later extended to 91, associated or not to intellectual disability, additional neurological signs, and complex malformations.<br/> In 14 patients pathogenic mutations were individuated, with an overall mutational frequency of 17,2% (14/81). 90,5% of patients had previously undergone unrevealing cytogenetic or single-gene analyses, thus our population was highly selected at the time NGS was performed.<br/> It is essential to underline that NGS must not be considered a screening examination, and that it requires a multidisciplinary approach in patients’ selection, and results interpretation. 1893805/application/pdfMED/39Neuropsichiatria infantileTDRSalis, BarbaraSotgiu, StefanoITIT-FI0098http://memoria.depositolegale.it/*/http://eprints.uniss.it/11602/1/SALIS_B_Next_Generation_Sequencing_Epilepsy.pdfhttp://eprints.uniss.it/11602/1/SALIS_B_Next_Generation_Sequencing_Epilepsy.pdfCFTDTD