|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure.
|
31720899 |
2020 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
|
30531953 |
2018 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes.
|
28505490 |
2017 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The first decade of the 21st century was marked by progress in understanding the basic biology of generalized epilepsies including generalized/genetic epilepsies with febrile seizures plus (GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1.
|
26060908 |
2015 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of voltage-gated sodium channel type I alpha subunit gene (SCN1A) are to be causally related with several phenotypes of epilepsy, generalized epilepsy with febrile seizure plus (GEFS+), Dravet syndrome, and other infantile epileptic encephalopathies.
|
25843248 |
2015 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations were found in 12 of the 71 patients (16.9%; ten with DS, and two with seizures in a Generalized Epilepsy with Febrile Seizures+(GEFS+) context).
|
24679980 |
2014 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Results from this relatively small series provide evidence that vaccinations do not significantly affect clinical and cognitive evolution of Dravet syndrome and generalized epilepsy with febrile seizure plus patients even if they carry SCN1A mutations.
|
24405698 |
2014 |
|
Epilepsy, Generalized
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome.
|
22618127 |
2012 |
|
Epilepsy, Generalized
|
0.500 |
Biomarker
|
disease |
CTD_human |
Therapy for hyperthermia-induced seizures in Scn1a mutant rats.
|
21480876 |
2011 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report on a novel missense variant (p.Val1379Leu) in the SCN1A gene segregating in an autosomal dominant pattern in a family exhibiting a variable epilepsy phenotype ranging from generalized epilepsy with febrile seizures during infancy to a well controlled seizure disorder in adulthood.
|
21775168 |
2011 |
|
Epilepsy, Generalized
|
0.500 |
Biomarker
|
disease |
BEFREE |
SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome.
|
19292758 |
2009 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.
|
18251839 |
2008 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
|
18566737 |
2008 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families.
|
18175077 |
2007 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SCN1A gene was screened for mutations in three unrelated Japanese families with generalized epilepsy with febrile seizure plus (GEFS+), febrile seizure with myoclonic seizures, or intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC).
|
17507202 |
2007 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.
|
17565594 |
2007 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood.
|
16302874 |
2005 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
|
12919402 |
2003 |
|
Epilepsy, Generalized
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We identified a mutation (D188V) in SCN1A segregating with generalized epilepsy with febrile seizures (GEFS) in a large kindred.
|
12576172 |
2003 |