ArticleAmerican journal of medical genetics. Part A2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.Molecular genetics & genomic medicine · 2019Trial
- The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.Annals of neurology · 2026Article
- Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.Genes · 2025Review
- Article
- Insight into Genetic Mutations of SZT2: Is It a Syndrome?Biomedicines · 2023Article
- Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.Brain : a journal of neurology · 2022Article
- A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.Epilepsia open · 2021Article
- Review
- Article
- The Dysfunctional Gangway:Journal of pediatric neurosciencesArticle
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
Early-onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2, a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocephaly, and developmental regression with compound heterozygous mutations in SZT2 as identified by whole exome sequencing. Serial imaging characterized the novel finding of progressive loss of central myelination. This case expands our clinical understanding of the SZT2-phenotype and emphasizes the role of this gene in the diagnostic investigation for EOEE and leukoencephalopathies.
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