Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease BEFREE Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. 31720899 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures. 31755124 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease BEFREE A cohort of 164 Dutch participants with SCN1A-related seizures was evaluated, consisting of 116 patients with Dravet syndrome and 48 patients with either GEFS+, febrile seizures plus (FS+), or FS. 30527252 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE SCN1A mutations are associated with a spectrum of seizure-related disorders, ranging from a relatively mild form of febrile seizures to a more severe epileptic encephalopathy known as Dravet syndrome. 31009440 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. 29460957 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Patients with SCN1A mutations often experience prolonged early-life febrile seizures (FSs), raising the possibility that these events may influence epileptogenesis and lead to more severe adult phenotypes. 28373025 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Here, we describe the case of an 8-year-old boy with a novel SCN1A mutation who developed febrile seizures at 10months of age which eventually advanced to frequent afebrile tonic-clonic seizures. 28262406 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE We sequenced the 5' upstream region of SCN1A in 166 patients with epilepsy and febrile seizures who were negative for point mutations in the coding regions or genomic rearrangements. 26969601 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. 28505490 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. 27768696 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease BEFREE The fact that we identify mouse FS-QTL2a with high FEB3 homology is strong support for the validity of the eFS mouse model to study genetics of human FS. 27690330 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Mutations in SCN1A, the gene encoding voltage-gated sodium channel NaV1.1, cause a spectrum of epilepsy disorders that range from genetic epilepsy with febrile seizures plus to catastrophic disorders such as Dravet syndrome. 26843603 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. 25795284 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. 26311622 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease CTD_human Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. 25362483 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Here, we present a multisystem analysis of an SCN1A mouse model carrying the NaV1.1-R1648H mutation, which causes febrile seizures and epilepsy in humans. 25378155 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Results from this relatively small series provide evidence that vaccinations do not significantly affect clinical and cognitive evolution of Dravet syndrome and generalized epilepsy with febrile seizure plus patients even if they carry SCN1A mutations. 24405698 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease GWASCAT Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). 25344690 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease CTD_human Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). 25344690 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE SCN1A mutations were found in 12 of the 71 patients (16.9%; ten with DS, and two with seizures in a Generalized Epilepsy with Febrile Seizures+(GEFS+) context). 24679980 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. 24076350 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease BEFREE SCN1A gene analysis is not commonly performed in subjects with generalised seizures without FS. 24842605 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE The patient with SCN1A mutation had the earliest onset of febrile convulsion and hemiparesis. 23916143 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. 24014518 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 GeneticVariation disease BEFREE Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A, the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel. 23773995 2013