SZT2 dictates GATOR control of mTORC1 signalling. Nature. 2017 Mar 16;543(7645):433-437.
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet . 2013 Sep 5;93(3):524-9.
A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant. Epilepsia Open. 2021 Jan 7;6(1):73-78.
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review. Seizure. 2024 Jan:114:111-120.