Condition: Epileptic encephalopathy


rs121909323 in CACNA1A gene and Epileptic encephalopathy PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs1135401732 in HNRNPU gene and Epileptic encephalopathy PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

rs1555703272 in SLC25A10 gene and Epileptic encephalopathy PMID 29211846 2018 SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

rs1135401734 in SNORA100;HNRNPU gene and Epileptic encephalopathy PMID 28815871 2017 Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

rs775162839 in UGDH gene and Epileptic encephalopathy PMID 32001716 2020 Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.