SZT2, SZT2 subunit of KICSTOR complex, 23334

N. diseases: 72; N. variants: 17
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Variable phenotypic expressivity is observed for this condition, while the location and type of mutations in SZT2 also has a potential impact on epilepsy severity. 30818181 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. 28893434 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Here we show that SZT2 (seizure threshold 2), a metazoan-specific protein mutated in epilepsy, recruits a fraction of mammalian GATOR1 and GATOR2 to form a SZT2-orchestrated GATOR (SOG) complex with an essential role in GATOR- and SESN-dependent nutrient sensing and mTORC1 regulation. 28199315 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. 23932106 2013