Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918775
rs121918775
0.820 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2013

dbSNP: rs121918775
rs121918775
0.820 GeneticVariation UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321

2012

dbSNP: rs121918775
rs121918775
0.820 GeneticVariation UNIPROT Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011

dbSNP: rs121918775
rs121918775
0.820 GeneticVariation UNIPROT SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 15944908

2005

dbSNP: rs121918775
rs121918775
0.820 GeneticVariation UNIPROT Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421

2004

dbSNP: rs121917935
rs121917935
0.810 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

dbSNP: rs121917935
rs121917935
0.810 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938

2013

dbSNP: rs121918791
rs121918791
0.810 GeneticVariation UNIPROT Genotype-phenotype associations in SCN1A-related epilepsies. 21248271

2011

dbSNP: rs121917935
rs121917935
0.810 GeneticVariation UNIPROT De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774

2010

dbSNP: rs121918791
rs121918791
0.810 GeneticVariation UNIPROT Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. 19522081

2009

dbSNP: rs121917935
rs121917935
0.810 GeneticVariation UNIPROT Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684

2006

dbSNP: rs121918793
rs121918793
0.810 GeneticVariation UNIPROT Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. 17054685

2006

dbSNP: rs121918625
rs121918625
0.810 GeneticVariation UNIPROT Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. 14672992

2004

dbSNP: rs121918791
rs121918791
0.810 GeneticVariation UNIPROT Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760

2002

dbSNP: rs121918793
rs121918793
0.810 GeneticVariation UNIPROT Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760

2002

dbSNP: rs121918625
rs121918625
0.810 GeneticVariation UNIPROT De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. 11359211

2001

dbSNP: rs121917918
rs121917918
0.810 GeneticVariation UNIPROT

dbSNP: rs121917971
rs121917971
0.810 GeneticVariation UNIPROT

dbSNP: rs1057519530
rs1057519530
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

dbSNP: rs1057519533
rs1057519533
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

dbSNP: rs121917964
rs121917964
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017

dbSNP: rs121917919
rs121917919
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs794726711
rs794726711
0.800 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015

dbSNP: rs121917921
rs121917921
0.800 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2013

dbSNP: rs121917937
rs121917937
0.800 GeneticVariation UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492

2013