rs117067974, KCNQ2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
0.020 GeneticVariation BEFREE Two patients with E515D presented with continuous spikes and waves during slow-wave sleep (CSWS), and the other two presented with BFNS. 28038823 2017
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
0.020 GeneticVariation BEFREE Two patients with E515D presented with continuous spikes and waves during slow-wave sleep (CSWS), and the other two presented with BFNS. 28038823 2017
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
0.020 GeneticVariation BEFREE The KCNQ2 variant p.Glu515Asp is known to cause benign familial neonatal seizures-1, and this variant showed paternal inheritance. 25819767 2015
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
0.020 GeneticVariation BEFREE The KCNQ2 variant p.Glu515Asp is known to cause benign familial neonatal seizures-1, and this variant showed paternal inheritance. 25819767 2015
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE We hypothesize that patients with the KCNQ2 E515D mutation are susceptible to seizures. 28038823 2017
Continuous spike and waves during slow sleep
CUI: C3806403
Disease: Continuous spike and waves during slow sleep
0.010 GeneticVariation BEFREE A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan. 28038823 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE We identified two epilepsy-associated single nucleotide variants in our case: CDKL5 p.Ala40Val and KCNQ2 p.Glu515Asp. 25819767 2015