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

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...

Full description

Saved in:
Bibliographic Details
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)
Format: Book
Published: BMC, 2020-07-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

Connect to this object online.

3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available