Author

Elisa Mannini

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Open access Jul 2026

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

The role of CNVs in the etiology of DEE in an adult cohort is investigated, to define the most appropriate diagnostic approach in this population and support the clinical utility of CNV analysis inclusion in the diagnostic workflow for adult patients with DEE.

L. Licchetta, G. Bruschi, T. Giangregorio et al. · Epilepsia · 1 citation