rs121917915
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121917929
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121917984
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918735
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918736
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121918751
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553531385
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553548194
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1559193213
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794726710
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794726825
|
|
GT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794726827
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797045941
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs869312670
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886039529
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918815
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The D1866Y mutation weakens this interaction, demonstrating a novel molecular mechanism leading to seizure susceptibility.
|
15525788 |
2004 |
rs121918622
|
|
|
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 |
rs2298771
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proportion of AA genotype carriers of rs2298771 A/G with seizure free was significantly higher than that of AG+GG genotype carriers from 3 months to 15 months of follow-up (P < 0.05).
|
22591328 |
2012 |
rs121918799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.
|
23398611 |
2013 |
rs121918622
|
|
|
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 |
rs796052995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study indicated that regardless of other inflammatory factors, brief heat alone increased brain excitability and induced multiple types of seizures in Gabrg2<sup>+/Q390X</sup> mice, suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations.
|
28505490 |
2017 |
rs121918622
|
|
|
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
|
|
|
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 |