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Article

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.

Epilepsia - 1 Sept 2026

Licchetta Laura, Bruschi Giulia, Giangregorio Tania, Stipa Carlotta, Mannini Elisa, Minardi Raffaella, Mostacci Barbara, Tontini Valentina, Pippucci Tommaso, Bisulli Francesca, Magini Pamela

Abstract excerpt

In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio-based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still lack sufficient accuracy. Chromosomal microarray (CMA) is indicated as...

Read the complete abstract on PubMed

Topics

Humans
DNA Copy Number Variations
Female
Adult
Male
Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Young Adult

Middle Aged

Epilepsy

Adolescent

Polymorphism, Single Nucleotide

Exome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 42400436
DOI: 10.1002/epi.70360
PMCID: PMC13592487

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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