Associated Papers
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 2025
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Zhang X et al.
Seizure, 2024
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 2023
SZT2 mutation in a boy with intellectual disability, seizures and autistic features.
Kariminejad A et al.
European Journal of Medical Genetics, 2019
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.
Imaizumi T et al.
Intractable & Rare Diseases Research, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Pizzino A et al.
American Journal of Medical Genetics. Part A, 2018
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
Nakamura Y et al.
Brain & Development, 2018
Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.
Venkatesan C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.
Falcone M et al.
Plos One, 2013
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