|
rs104894718
|
|
Seizures
|
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 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly.
|
24567321 |
2014 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.
|
24747835 |
2014 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Presence of epilepsy-associated variants in large exome databases.
|
23527921 |
2013 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit.
|
23584539 |
2013 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit.
|
22425777 |
2012 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.
|
22292491 |
2012 |
|
rs104894718
|
|
Seizures
|
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
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules.
|
14690046 |
2003 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.
|
14504340 |
2003 |
|
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
|
12011299 |
2002 |
|
rs104894718
|
|
Seizures
|
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
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.
|
11866477 |
2002 |
|
rs104894718
|
|
Seizures
|
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
|
|
Seizures
|
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
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.
|
9461582 |
1998 |