Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant condition often caused by mutations in SCN1A that usually first manifests as childhood simple febrile seizures but may progress to a variety of afebrile generalized seizure types.
|
28262406 |
2017 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies.
|
27889818 |
2017 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Genetic epilepsy with febrile seizures plus: Refining the spectrum.
|
28842445 |
2017 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified seven cases with non-EE GEFS+ phenotypes and de novo SCN1A pathogenic variants, including a monozygotic twin pair.
|
28084635 |
2017 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
CLINGEN |
We identified seven cases with non-EE GEFS+ phenotypes and de novo SCN1A pathogenic variants, including a monozygotic twin pair.
|
28084635 |
2017 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Causative variants in SCN1A gene which codes the main, pore-forming subunit of the channel expressed in central nervous system are associated predominantly with Dravet syndrome (DS), as well as with generalized epilepsy with febrile seizures plus (GEFS+) making it one of the most significant epilepsy gene.
|
27045673 |
2016 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.
|
25576396 |
2015 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutation may be a clinically-useful genetic marker in order to distinguish GEFS+ patients from those with classic idiopathic generalised epilepsy, even if they present an atypical clinical picture.
|
24842605 |
2014 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.
|
24257433 |
2014 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
CLINGEN |
Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation.
|
25378155 |
2014 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS(+)) and their affected and some unaffected family members, coming from a restricted geographic area, was performed.
|
22011963 |
2012 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients.
|
22944210 |
2012 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
Biomarker
|
disease |
BEFREE |
SCN1A is a gene that codes for the voltage-dependent sodium channel α1 subunit and has been implicated in generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy.
|
23032131 |
2012 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations of SCN1A generate phenotypes ranging from the extremely severe form of Dravet syndrome (DS) to a mild form of generalized epilepsy with febrile seizures plus (GEFS+).
|
22151702 |
2012 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report on two patients with SCN1A mutations and severe epilepsy within the spectrum of generalized epilepsy with febrile seizures plus syndrome (GEFS+), the phenotypes being consistent with DS and MAE, respectively.
|
21396429 |
2011 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN1A and SCN2A genes are reported in childhood epilepsies; in particular SCN1A was found mutated in patients with Dravet syndrome and with generalized epilepsy with febrile seizures plus (GEFS+).
|
21893419 |
2011 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.
|
21843600 |
2011 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI) are associated with sodium channel α-subunit type-1 gene (SCN1A) mutations.
|
20550552 |
2010 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The offspring have GEFS+ phenotypes with opposite severity, an illustration of the broad intrafamilial variability of SCN1A gene mutations.
|
20117752 |
2010 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the majority of GEFS+ patients in Indonesia were not associated with SCN1A mutations.
|
20452746 |
2010 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
|
20600615 |
2010 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCN1A gene have been identified in a variety of epilepsy phenotypes, from severe encephalopathies such as Dravet syndrome to milder familial forms such as generalized epilepsy with febrile seizures plus.
|
19782004 |
2009 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NaV1.1 neuronal sodium channel alpha-subunit (SCN1A) gene have been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS(+)) to severe myoclonic epilepsy in infancy (SMEI), and rare cases of familial migraine.
|
19469841 |
2009 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
|
19339291 |
2009 |
Generalized Epilepsy with Febrile Seizures Plus
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Different SCN1A mutations are known to cause a variety of phenotypes, such as generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome and familial hemiplegic migraine (FHM).
|
19673951 |
2009 |