Trial reportMolecular genetics & genomic medicine2019
Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.
Trial report in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.Molecular genetics & genomic medicine · 2019Trial
- Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.Genes · 2025Review
- 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
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.Life (Basel, Switzerland) · 2021Review
- A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.Epilepsia open · 2021Article
- The Dysfunctional Gangway:Journal of pediatric neurosciencesArticle
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2-related developmental and epileptic encephalopathies (DEEs) were reviewed aiming to expand knowledge of the genotype and phenotype of SZT2 mutations.
methodsTargeted next-generation sequencing was performed to identify pathogenic mutations in 205 cases with DEEs of unknown etiology. Detailed clinical and genetic data were collected from SZT2-associated patients.
resultsFour novel mutations were found (c.1626 + 1G>A, c.5772dupA, c.4209C > A, c.7307_7308insG) in three patients. All the variants were inherited from their parents. Two patients were siblings and harbored the same mutations and presented developmental delay prior to the onset of seizures. All the individuals were diagnosed as DEEs, drug refractory epilepsy, and experienced status epilepticus (SE); one patient died of SE. One subject showed subependymal nodules as similar as those of tuberous sclerosis complex (TSC) in cranial magnetic resonance imaging (MRI).
conclusionOur results expand the genotype and phenotypes of SZT2-related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings.
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