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Article

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

European journal of human genetics : EJHG - 1 Mar 2015

Della Mina Erika, Ciccone Roberto, Brustia Francesca, Bayindir Baran, Limongelli Ivan, Vetro Annalisa, Iascone Maria, Pezzoli Laura, Bellazzi Riccardo, Perotti Gianfranco, De Giorgis Valentina, Lunghi Simona, Coppola Giangennaro, Orcesi Simona, Merli Pietro, Savasta Salvatore, Veggiotti Pierangelo, Zuffardi Orsetta

Abstract excerpt

We analyzed by next-generation sequencing (NGS) 67 epilepsy genes in 19 patients with different types of either isolated or syndromic epileptic disorders and in 15 controls to investigate whether a quick and cheap molecular diagnosis could be provided. The average number of nonsynonymous and spli...

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Identifiers

PMID: 24848745
DOI: 10.1038/ejhg.2014.92
PMCID: PMC4326720

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24848745-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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