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

doi:10.1186/s13052-020-00860-1

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Article

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

Italian journal of pediatrics - 6 Jul 2020

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

Abstract excerpt

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 relatively non-specific symptoms, mimicking those observed in more common paediatric epilepsies and followed by rapid...

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PMID: 32631363
DOI: 10.1186/s13052-020-00860-1
PMCID: PMC7339579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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