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Author

L. Perilli

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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. · 0 citations
Review Open access Aug 2026

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

This review synthesizes contemporary insights into the genetic and molecular pathophysiology of seizures and epilepsy, with emphasis on mechanisms that destabilize excitation–inhibition balance, promote epileptogenesis, and drive pharmacoresistance and supports more refined approaches to epilepsy classification and future precision medicine strategies.

Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala et al. · 0 citations