Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000

2016
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208

2016
dbSNP: rs267606959
rs267606959
POLG
A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011
dbSNP: rs267606959
rs267606959
POLG
A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010
dbSNP: rs1057518843
rs1057518843
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs377274761
rs377274761
GALC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1800497
rs1800497
ANKK1
0.010 GeneticVariation BEFREE The polymorphism DRD4_VNTR was associated with family history of epilepsy (P = 0.003), DRD2_rs1800497 was related to status epilepticus (P = 0.022), and intron 8 VNTR DAT was related to higher seizure frequency (P = 0.019) and family history of epilepsy (P = 0.011). 29575277

2018
dbSNP: rs387907281
rs387907281
ATP1A3
0.010 GeneticVariation BEFREE Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. 25996915

2015
dbSNP: rs398122887
rs398122887
ATP1A3
0.010 GeneticVariation BEFREE Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. 25996915

2015
dbSNP: rs80356537
rs80356537
ATP1A3
0.010 GeneticVariation BEFREE Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K(26%) and 11 had G947R (8%) mutations [corrected].Patients with an E815K mutation demonstrate an earlier age of onset, more severe motor impairment and a higher prevalence of status epilepticus. 25996915

2015
dbSNP: rs550423482
rs550423482
PNPO
0.010 GeneticVariation BEFREE Two unrelated patients homozygous for the p.Arg225His mutation experienced status epilepticus when switched to pyridoxal 5'-phosphate (PLP). 24658933

2014
dbSNP: rs113994097
rs113994097
POLG
0.010 GeneticVariation BEFREE Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. 18294203

2008