Associated Papers
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 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
A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.
Naseer MI et al.
Genes & Genomics, 2018
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
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Basel-Vanagaite L et al.
American Journal of Human Genetics, 2013
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