|
Epilepsy
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na<sup>+</sup> channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β<sub>1</sub> , are established causes of genetic epilepsies.
|
29466837 |
2018 |
|
Epilepsy
|
0.090 |
Biomarker
|
disease |
BEFREE |
Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy.
|
25362483 |
2014 |
|
Epilepsy
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
In contrast, two other SCN1B mutations associated with epilepsy, p.C121W and p.R85H, are expressed at the cell surface.
|
21994374 |
2011 |
|
Epilepsy
|
0.090 |
Biomarker
|
disease |
BEFREE |
Sodium channels are modulated by beta1 subunits, encoded by SCN1B, a gene also linked to epilepsy.
|
19710327 |
2009 |
|
Epilepsy
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
TLE with an SCN1B mutation is not a contraindication to epilepsy surgery.
|
17020904 |
2007 |
|
Epilepsy
|
0.090 |
Biomarker
|
disease |
BEFREE |
Mutations of voltage-gated sodium channel genes SCN1A, SCN2A, and SCN1B have been identified in several types of epilepsies including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI).
|
16806834 |
2006 |
|
Epilepsy
|
0.090 |
Biomarker
|
disease |
BEFREE |
In the last several years, mutations of sodium channel genes, SCN1A, SCN2A, and SCN1B, and GABA(A) receptor gene, GABRG2 were identified as causes of some febrile seizures related epilepsies.
|
16884893 |
2006 |
|
Epilepsy
|
0.090 |
Biomarker
|
disease |
BEFREE |
Mutations in voltage-gated sodium channel genes (SCN1A, SCN2A, SCN1B) have been reported to be responsible for some epilepsies.
|
15618878 |
2005 |
|
Epilepsy
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy.
|
12083760 |
2002 |