ArticleEpilepsia open2021
A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.
Article in Epilepsia open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 7 citations in OpenAlex.
- Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.Neurology · 2025Article
- Insight into Genetic Mutations of SZT2: Is It a Syndrome?Biomedicines · 2023Article
- Functional Effects of Epilepsy AssociatedInternational journal of molecular sciences · 2022Article
- 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
- A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.Epilepsia open · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
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 down-slanting palpebral fissures, were present in the majority. We herein report a novel SZT2 variant in one of two siblings both diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). This report is the fourth to document a possible familial case in EIMFS, a condition that was not previously associated with SZT2 variant. This report expands the phenotypic expression of SZT2, corroborates the importance of genetic counseling in some cases of EIMFS, and highlights the efficacy of potassium bromide in controlling the seizures associated with this condition.
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