|
rs1006737
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several genetic studies have implicated the CACNA1C SNP rs1006737 in bipolar disorder (BD) and schizophrenia (SZ) pathology.
|
23437284 |
2013 |
|
rs1009298200
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1010184002
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1024611
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs1024611 AA genotype was associated with a greater susceptibility to drug-resistant epilepsy (p=0.008; OR=2.51, 95% CI: 1.33-4.72), adjusted for age, sex, and seizure type, and the association remained significant after Bonferroni correction for multiple testing (p<0.05).
|
23996681 |
2013 |
|
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The ABCB1 3435C>T genotype does not have a major role in determining the efficacy of seizure control with initial AED therapy.
|
19453704 |
2009 |
|
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
There was no association of the ABCB1 3435C-->T polymorphism, the three-SNP haplotype, or any gene-wide tag SNP with time to first seizure after starting drug therapy, time to 12-month remission, or time to drug withdrawal due to unacceptable side-effects or to lack of seizure control.
|
16857572 |
2006 |
|
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The association of ABCB1-C3435T with risk of drug-resistance was significant in the overall population (T allele vs. C allele, OR: 1.21; 95%CI: 1.06-1.39; P=0.006) and in Caucasians, adults, groups treated with various drugs, a '>10 seizures in a year' group based on resistance and a '≥2 years seizure free' group based on response subgroup analysis.
|
24794827 |
2014 |
|
rs1045642
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One hundred twenty-seven cases of seizure (86 GS and 41 FS) patients were analyzed for MDR1 C3435T and GABRG2 C588T gene polymorphisms using restriction fragment length polymorphism-polymerase chain reaction.Serum PHT levels were analyzed.
|
22239287 |
2012 |
|
rs104893851
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894483
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
|
11791207 |
2002 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit.
|
22425777 |
2012 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.
|
9461582 |
1998 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.
|
9539778 |
1998 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free.
|
17020904 |
2007 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit.
|
23584539 |
2013 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly.
|
24567321 |
2014 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.
|
11866477 |
2002 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules.
|
14690046 |
2003 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
|
12011299 |
2002 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
|
9697698 |
1998 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.
|
24747835 |
2014 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.
|
12486163 |
2002 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.
|
22292491 |
2012 |
|
rs104894718
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures.
|
27277800 |
2016 |