Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project

• Main Authors: Elisabetta Amadori (Author), Marcello Scala (Author), Giulia Sofia Cereda (Author), Maria Stella Vari (Author), Francesca Marchese (Author), Veronica Di Pisa (Author), Maria Margherita Mancardi (Author), Thea Giacomini (Author), Laura Siri (Author), Fabiana Vercellino (Author), Domenico Serino (Author), Alessandro Orsini (Author), Alice Bonuccelli (Author), Irene Bagnasco (Author), Amanda Papa (Author), Carlo Minetti (Author), Duccio Maria Cordelli (Author), Pasquale Striano (Author)
• פורמט: ספר
• יצא לאור: BMC, 2020-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subt...