Associated Papers
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
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.
Nakamura Y et al.
Plos One, 2019
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
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