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

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 subtle and r...

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Detalles Bibliográficos
Autores principales: Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, Striano, Pasquale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339579/
https://www.ncbi.nlm.nih.gov/pubmed/32631363
http://dx.doi.org/10.1186/s13052-020-00860-1

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