rs1057516094, KCNQ2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 CausalMutation CLINVAR Early and effective treatment of KCNQ2 encephalopathy. 25880994 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 15249611 2004
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
0.800 GeneticVariation UNIPROT Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592 2003
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 GeneticVariation CLINVAR