Associated Papers
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 2023
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Luo S et al.
Frontiers in Molecular Neuroscience, 2023
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD et al.
Brain : a Journal of Neurology, 2022
SZT2 mutation in a boy with intellectual disability, seizures and autistic features.
Kariminejad A et al.
European Journal of Medical Genetics, 2019
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS et al.
Seizure, 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
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