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Article

SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation

5 May 2023

Abstract excerpt

Background Recessive SZT2 variants are reported to be associated with developmental and epileptic encephalopathy 18 (DEE-18) and occasionally neurodevelopment abnormalities (NDD) without seizures. This study aims to explore the phenotypic spectrum of SZT2 and the genotype-phenotype correlation. Methods Trios-based whole-exome sequencing was performed in patients with epilepsy. Previously reported SZT2 mutations...

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PMID: 37213690
DOI: 10.3389/fnmol.2023.1162408

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