|
rs7587026
|
SCN1A;SCN1A-AS1
|
Mesial temporal lobe epilepsy with hippocampal sclerosis
|
|
0.810 |
GeneticVariation |
BEFREE |
Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59].
|
24014518 |
2013 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Epilepsy
|
|
0.060 |
GeneticVariation |
BEFREE |
In conclusion, our results suggest that SCN1A rs3</span>812718 polymorphism is associated with the risk of epilepsy.
|
29605548 |
2018 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Epilepsy
|
|
0.060 |
GeneticVariation |
BEFREE |
The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A: odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotype GG versus AA (p = 0.003).
|
24337656 |
2014 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Epilepsy
|
|
0.060 |
GeneticVariation |
BEFREE |
SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.
|
24076350 |
2014 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Epilepsy
|
|
0.060 |
GeneticVariation |
BEFREE |
Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p=0.001).
|
25668517 |
2015 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Epilepsy
|
|
0.060 |
GeneticVariation |
BEFREE |
Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis.
|
30413604 |
2018 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Epilepsy
|
|
0.060 |
GeneticVariation |
BEFREE |
A common SCN1A IVS5-91G>A (rs3812718) allele has been attributed to be a possible modifying factor for epilepsy susceptibility and therapeutic response.
|
23466530 |
2013 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Seizures
|
|
0.040 |
GeneticVariation |
BEFREE |
We used a R1648H knock-in mouse model (Scn1a<sup>RH/+</sup>) with mild/asymptomatic phenotype to dissociate the effects of seizures and of the mutation per se.
|
30659983 |
2019 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Seizures
|
|
0.040 |
GeneticVariation |
BEFREE |
Knock-in mice heterozygous for the R1648H mutation (Scn1a(RH/+)) have decreased thresholds to induced seizures and infrequent spontaneous seizures, whereas homozygotes display spontaneous seizures and premature lethality.
|
21156207 |
2011 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Seizures
|
|
0.040 |
GeneticVariation |
BEFREE |
To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood.
|
28373025 |
2017 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Seizures
|
|
0.040 |
GeneticVariation |
BEFREE |
We also examined seizure susceptibility in Cnr2 mutants harboring the human SCN1A R1648H (RH) epilepsy mutation and performed Electroencephalography (EEG) analysis to determine whether the loss of CB2Rs would increase spontaneous seizure frequency in Scn1a RH mutant mice.
|
31758544 |
2019 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Epilepsy
|
|
0.030 |
GeneticVariation |
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 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Epilepsy
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy.
|
21156207 |
2011 |
|
rs121918622
|
SCN1A;SCN1A-AS1;LOC102724058
|
Epilepsy
|
|
0.030 |
GeneticVariation |
BEFREE |
We also examined seizure susceptibility in Cnr2 mutants harboring the human SCN1A R1648H (RH) epilepsy mutation and performed Electroencephalography (EEG) analysis to determine whether the loss of CB2Rs would increase spontaneous seizure frequency in Scn1a RH mutant mice.
|
31758544 |
2019 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Febrile Convulsions
|
|
0.030 |
GeneticVariation |
BEFREE |
Arecent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS).
|
20477842 |
2010 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Febrile Convulsions
|
|
0.030 |
GeneticVariation |
BEFREE |
We conclude that in the population studied, although rs3812718 polymorphism increases the susceptibility to MTLE-HS, this is not by increasing the susceptibility to FS.
|
22578703 |
2012 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Febrile Convulsions
|
|
0.030 |
GeneticVariation |
BEFREE |
SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.
|
24076350 |
2014 |
|
rs794726759
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
0.030 |
GeneticVariation |
BEFREE |
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.
|
19809937 |
2009 |
|
rs794726759
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
0.030 |
GeneticVariation |
BEFREE |
As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A.
|
29453127 |
2018 |
|
rs794726759
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
0.030 |
GeneticVariation |
BEFREE |
We generated iPSCs from a Dravet syndrome patient with a c.4933C>T substitution in SCN1A, which is predicted to result in truncation in the fourth homologous domain of the protein (p.R1645*).
|
23639079 |
2013 |
|
rs121917984
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
0.020 |
GeneticVariation |
BEFREE |
This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.Ann Neurol 2019;85:514-525.
|
30779207 |
2019 |
|
rs121917984
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
0.020 |
GeneticVariation |
BEFREE |
This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.
|
31257984 |
2020 |
|
rs121917984
|
SCN1A;SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
|
0.020 |
GeneticVariation |
BEFREE |
This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.Ann Neurol 2019;85:514-525.
|
30779207 |
2019 |
|
rs121917984
|
SCN1A;SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
|
0.020 |
GeneticVariation |
BEFREE |
This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.
|
31257984 |
2020 |
|
rs121918628
|
SCN1A;SCN1A-AS1;LOC102724058
|
Hemiplegic migraine, familial type 1
|
|
0.020 |
GeneticVariation |
BEFREE |
We studied the FHM mutation Q1489K by transfecting tsA-201 cells and cultured neurons with human Na(v)1.1.
|
18632931 |
2008 |