|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases.
|
24656210 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN1A, the gene encoding voltage-gated sodium channel NaV1.1, cause a spectrum of epilepsy disorders that range from genetic epilepsy with febrile seizures plus to catastrophic disorders such as Dravet syndrome.
|
26843603 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.
|
29981888 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our aim was the molecular analysis of SCN1A gene in affected Iranian patients with GEFS+ and Dravet syndrome diagnosed clinically to explain genotype-phenotype correlation and exact classification.
|
20682179 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome is the prototype of SCN1A-mutation associated epilepsies.
|
27582020 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively studied patients with Dravet syndrome who had mutations in SCN1A, whose first seizure was a convulsion, and for whom validated source data were available.
|
20447868 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively.
|
21204806 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
|
20738378 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients.
|
25204757 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
After one of these children with FS later developed Dravet syndrome (severe myoclonic epilepsy of infancy), we sequenced the SCN1A gene, a gene known to be associated with Dravet syndrome, and identified a heterozygous frameshift mutation.
|
19763161 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo.
|
24207121 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We test the hypothesis that the deletion of Scn1a in DS mice is associated with impaired circadian regulation of sleep.
|
31346614 |
2019 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome.
|
21248271 |
2011 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
Biomarker
|
disease |
BEFREE |
We developed a zebrafish model of DS using morpholino antisense oligomers (MOs) targeting scn1Lab, the zebrafish ortholog of SCN1A.
|
25965391 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
Biomarker
|
disease |
BEFREE |
We hypothesized that over-expression of NaVβ1 would facilitate the function of residual voltage-gated channels and improve the DS phenotype in the Scn1a+/- mouse model of DS.
|
31830809 |
2020 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
Biomarker
|
disease |
BEFREE |
SCN1A-negative Dravet syndrome patients and patients with phenotypes resembling Dravet syndrome were checked for PCDH19 and TSPYL4 mutations.
|
22848613 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
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 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In a retrospective evaluation of 70 patients with Dravet syndrome and SCN1A mutations, seizures following vaccinations were reported in 27%.
|
21219303 |
2011 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, apart from SCN1A mutations in >80% of patients with Dravet syndrome, the genetic underpinnings of these epilepsies remain largely unknown.
|
25690317 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
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 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An overwhelmingly high number of SCN1A mutations have been associated with DS.
|
22705271 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report an inherited SCN1A gene deletion not exclusively associated with Dravet syndrome.
|
20484682 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A.
|
29329111 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
Biomarker
|
disease |
BEFREE |
These channelopathies include genes encoding voltage-gated channels specific for sodium (SCN1A, SCN2A, SCN1B, SCN9A) and potassium (KCNQ2, KCNQ3) which account for a variety of epilepsy phenotypes ranging from mild, such as Benign familial neonatal seizures (BFNS) to severe, such as Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) and the rare and unusual syndrome paroxysmal extreme pain disorder (PEPD).
|
17049761 |
2006 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epileptic encephalopathy remains unknown.
|
24874546 |
2014 |