IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). 28295038 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. 27665735 2016