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Article

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.

Epilepsia open - 1 Mar 2021

El Halabi Tarek, Dirani Maya, Hotait Mostafa, Nasreddine Wassim, Beydoun Ahmad

Abstract excerpt

Seizure threshold-2 (SZT2) gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild-moderate intellectual disabilities without seizures, to an early-onset epileptic encephalopathy with severe cognitive impairment. In addition, hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and...

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Identifiers

PMID: 33681650
DOI: 10.1002/epi4.12451
PMCID: PMC7918305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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