|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
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 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the occurrence of FS and epilepsy among first- and second-degree relatives (N = 867) of 74 SMEI probands with SCN1A mutations (70 de novo, four inherited) and compared data with age-matched and ethnically matched control families.
|
17054684 |
2006 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental mosaicism of the proband's pathogenic mutation in SCN1A, the causal gene of DS in 112 families.
|
29142202 |
2017 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Approximately 80% of patients with Dravet syndrome have been associated with heterozygous mutations in SCN1A gene encoding voltage-gated sodium channel (VGSC) α(I) subunit, whereas a homozygous mutation (p.Arg125Cys) of SCN1B gene encoding VGSC β(I) subunit was recently described in a patient with Dravet syndrome.
|
23148524 |
2012 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?
|
13129592 |
2003 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with SMEI and enlarged muscle mitochondria associated with mutations in mitochondrial polymerase gamma 1 (POLG1) and SCN1A.
|
19359143 |
2009 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
|
20738378 |
2010 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet's syndrome, a severe epileptic encephalopathy.
|
20879882 |
2010 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome due to an SCN1A mutation is twice as common in the United States as previously thought.
|
26438699 |
2015 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
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 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Complete loss of function in the Na(v) 1.1 channel encoded by the SCN1A gene is associated with severe myoclonic epilepsy in infancy (SMEI), a devastating infantile-onset epilepsy with ataxia, cognitive dysfunction, and febrile and afebrile seizures resistant to current medications.
|
21463282 |
2011 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically.
|
26802095 |
2016 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities of the sodium channel gene SCN1A are found in 75% of DS patients.
|
22386634 |
2012 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in <i>SCN1A.</i> Recognizing this phenotype will guide therapeutic intervention in patients with DS.
|
28148630 |
2017 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.
|
29408779 |
2018 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
All identified variants were found in DS patients with 85.7% sensitivity, thus supporting the role of profound SCN1A gene variants in etiology of DS phenotype.
|
27045673 |
2016 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We investigated how two distinct mutations in SCN1A differentially affect electrophysiological properties of the patient-derived GABAergic neurons and clinical severities in two Dravet syndrome (DS) patients.
|
29295803 |
2018 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Deletions and duplications/amplifications of the α1-sodium channel subunit (SCN1A) gene occur in about 12% of patients with Dravet syndrome (DS) who are otherwise mutation-negative.
|
21204810 |
2010 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene.
|
19214208 |
2009 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Epilepsies associated with SCN1A mutations range in severity from febrile seizures to severe epileptic encephalopathies including Dravet syndrome and severe infantile multifocal epilepsy.
|
21753172 |
2011 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
About 50% of SCN1A DS mutations truncate Na(V)1.1, possibly causing complete loss of its function.
|
22150645 |
2012 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, we described de novo mutations of the neuronal sodium channel alpha-subunit gene SCN1A in seven isolated SMEI patients.
|
12754708 |
2003 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the voltage-gated sodium channel (VGSC) gene SCN1A, encoding the Na<sub>v</sub>1.1 channel, are responsible for a number of epilepsy disorders including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS).
|
28373025 |
2017 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients.
|
22147323 |
2011 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings may indicate a functional neuroimaging aspect of epileptic encephalopathy of DS or a feature of the SCN1A variant itself.
|
30176532 |
2018 |