Problemi speciali
Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno
Developmental and Epileptic Encephalopathies: from practice to genetics
Caterina Zanus1, Luciana Musante2, Flavioa Faletra2, Marco Carrozzi1, Paola Costa1
1SC di Neuropsichiatria Infantile, 2SC di Genetica Medica, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
Gennaio 2022 - pagg. 33 -40 | DOI: 10.53126/MEB41033
Abstract
In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) discover an everyday increasing number of new epilepsy-associated genes and provide information with positive effects on genetic counselling and treatment choice. Thanks to NGS, genetics is becoming a first line diagnostic test in DEEs but a consensus on who should receive genetic testing, on the best testing strategy and on the utility of genetic testing is still lacking. Many patients are being studied with research sequencing and analysis. The participation in a study on the genetic causes of DEE led to share some considerations about this topic and the most relevant aspects of the described experience.
Riassunto
Negli ultimi anni il campo della ricerca nell’ambito della genetica dell’epilessia si è notevolmente espanso, supportato dall’implementazione delle metodologie di Next Generation Sequencing (NGS). In particolare, gli studi sulle Developmental and Epileptic Encephalopathy (DEE) hanno scoperto un numero crescente di nuovi geni associati a epilessia e fornito informazioni con ricadute rilevanti ai fini della consultazione genetica e delle scelte terapeutiche. Grazie alle tecniche NGS, la genetica sta diventando un test diagnostico di primo livello nelle DEE, anche se non esiste ancora un consenso unanime rispetto all’individuazione dei pazienti da candidare all’esame, alla scelta della tecnica specifica, all’utilità dei vari test genetici; molti pazienti vengono di fatto ancora studiati con test effettuati in regime di ricerca. La recente partecipazione a uno studio multicentrico, che ha visto coinvolto il nostro Istituto nella ricerca delle cause genetiche di DEE, ci ha motivati a condividere alcune considerazioni su questo argomento e alcuni aspetti significativi della nostra esperienza.
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Corrispondenza: caterina.zanus@burlo.trieste.it