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Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.

Epilepsy & behavior : E&B - 1 Jul 2020

Trivisano Marina, Rivera Manuel, Terracciano Alessandra, Ciolfi Andrea, Napolitano Antonio, Pepi Chiara, Calabrese Costanza, Digilio Maria Cristina, Tartaglia Marco, Curatolo Paolo, Vigevano Federico, Specchio Nicola

Abstract excerpt

Seizure threshold 2 (SZT2) gene mutations have been associated with developmental and epileptic encephalopathies (DEEs). Following a literature review, we collected 22 patients and identified the main clinical features related to SZT2 variants that are epilepsy with onset within the first years of life, intellectual disability (ID), macrocephaly with dysmorphic facial features, corpus callosum (CC) shape...

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PMID: 32402703
DOI: 10.1016/j.yebeh.2020.107097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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