Author

R. Minardi

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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

Open access Jul 2026

Expanding the electroclinical spectrum of TANC2 ‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

The electroclinical and developmental features of three patients carrying truncating TANC2 variants identified through trio‐exome sequencing within the European collaborative platform NETRE are described, expanding the known clinical spectrum of TANC2‐related disorders and suggesting that selected patients may have a more favorable seizure course than expected.

L. Perilli, Carlotta Stipa, Gianmichele Villano et al. · Epilepsia Open · 0 citations