Salis, Barbara
Next Generation Sequencing in rare childhood epilepsy of suspected genetic etiology [Tesi di dottorato]
Universita' degli studi di Sassari, 2017

Mutations 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.

In relazione con
Sotgiu, Stefano
MED/39 - Neuropsichiatria infantile

Tesi di dottorato. | Lingua: en. | Paese: | BID: TD18029189