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

• मुख्य लेखकों: Elisabetta Amadori (लेखक), Marcello Scala (लेखक), Giulia Sofia Cereda (लेखक), Maria Stella Vari (लेखक), Francesca Marchese (लेखक), Veronica Di Pisa (लेखक), Maria Margherita Mancardi (लेखक), Thea Giacomini (लेखक), Laura Siri (लेखक), Fabiana Vercellino (लेखक), Domenico Serino (लेखक), Alessandro Orsini (लेखक), Alice Bonuccelli (लेखक), Irene Bagnasco (लेखक), Amanda Papa (लेखक), Carlo Minetti (लेखक), Duccio Maria Cordelli (लेखक), Pasquale Striano (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...