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Article

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.

Seizure - 1 Jan 2024

Zhang Xin, Han Yuzeng, Yang Li, Xu Na, Zhu Liping, Qiu Shiyan, Li Yufen, Xu Liyun, Yu Xixi

Abstract excerpt

PURPOSE: Seizure threshold 2 protein homolog gene (SZT2, MIM: 615463) related diseases are extremely rare autosomal recessive disorders with a wide spectrum of clinical phenotypes ranging from mild intellectual impairment to severe developmental epileptic encephalopathy (DEE). Most SZT2 related diseases are accompanied by craniofacial malformation and corpus callosum malformation. This study attempts to analyze...

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Identifiers

PMID: 38134649
DOI: 10.1016/j.seizure.2023.12.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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