|
rs794726759
|
|
|
0.030 |
GeneticVariation |
BEFREE |
As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A.
|
29453127 |
2018 |
|
rs794726759
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We generated iPSCs from a Dravet syndrome patient with a c.4933C>T substitution in SCN1A, which is predicted to result in truncation in the fourth homologous domain of the protein (p.R1645*).
|
23639079 |
2013 |
|
rs794726759
|
|
|
0.030 |
GeneticVariation |
BEFREE |
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.
|
19809937 |
2009 |
|
rs121917984
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.
|
31257984 |
2020 |
|
rs121917984
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.Ann Neurol 2019;85:514-525.
|
30779207 |
2019 |
|
rs121918811
|
|
|
0.020 |
GeneticVariation |
BEFREE |
As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A.
|
29453127 |
2018 |
|
rs121918811
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We generated iPSCs from a Dravet syndrome patient with a c.4933C>T substitution in SCN1A, which is predicted to result in truncation in the fourth homologous domain of the protein (p.R1645*).
|
23639079 |
2013 |
|
rs1135401736
|
|
|
0.020 |
GeneticVariation |
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 |
|
rs121918775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, we performed a biophysical analysis of three SCN1A missense mutations (R865G, R946C and R946H) we detected in six patients with DS.
|
21864321 |
2011 |
|
rs1135401736
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We conclude that SCN1B p.R125C is an autosomal recessive cause of Dravet syndrome through functional gene inactivation.
|
19710327 |
2009 |
|
rs121918775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The possibility of participation of ion selectivity dysfunction of the channel in the pathogenesis of SMEI was suggested by a mutation in the pore region (R946C) identified in a SMEI patient.
|
15277629 |
2004 |
|
rs121917921
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe that a C57BL/6 J knock-in mouse strain carrying a heterozygous, clinically relevant SCN1A mutation (A1783V) presents a full spectrum of DS manifestations.
|
31578435 |
2019 |
|
rs121918622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A relevant example is the pleiotropic R1648H mutation that can cause either mild GEFS+ or severe DS.
|
30659983 |
2019 |
|
rs766910280
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our report is the first set of siblings with homozygosity for the p.Arg89Cys variant in SCN1B and further implicates biallelic mutations in this gene as a cause of epileptic encephalopathy mimicking Dravet syndrome.
|
31465153 |
2019 |
|
rs794726752
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, human induced pluripotent stem cell (hiPSC) line FUi002-A was generated from skin fibroblasts obtained from a clinically diagnosed 26-year-old male DS patient with the R1525X variant of the SCN1A gene.
|
29981888 |
2018 |
|
rs121918803
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This 20-year-old man had infantile-onset epilepsy with the classical clinical features of Dravet syndrome and a de novo A1326P SCN1A mutation.
|
28233668 |
2017 |
|
rs121909674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that synaptic GABAA receptors were reduced while intracellular nonfunctional γ2(Q390X) subunits were increased in the heterozygous DS and GEFS+ KI mice, but not in the heterozygous absence epilepsy KO mice.
|
27131289 |
2016 |
|
rs121917918
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene.
|
25986186 |
2015 |
|
rs121917993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Probands from those families even clinically diagnosed with atypical Dravet syndrome (DS), generalized epilepsy with febrile seizures plus (GEFS+), and focal epilepsy, had heterozygous p.Arg1596 His/Cys missense substitutions, c.4787G>T and c.4786C>T in the SCN1A gene.
|
26188943 |
2015 |
|
rs121918792
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A different substitution (G1674R) at the same amino acid position, as well as two other SCN1A mutations found in this study, had previously been reported in Dravet syndrome.
|
26311622 |
2015 |
|
rs1490209867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene.
|
25986186 |
2015 |
|
rs781204054
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One patient had SCN2A mutation, F328V, which had previously been reported in Dravet syndrome.
|
26311622 |
2015 |
|
rs398123593
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Postnatal day 15-21 heterozygous SCN1A-R1407X knock-in mice, expressing a human Dravet syndrome mutation, were used to investigate a possible cardiac phenotype.
|
24155976 |
2013 |
|
rs121918624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the effect of two DS truncated Na(V)1.1 mutants, R222* and R1234*, on coexpressed wild-type Na(+) channels.
|
22150645 |
2012 |
|
rs727504136
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied the effect of two DS truncated Na(V)1.1 mutants, R222* and R1234*, on coexpressed wild-type Na(+) channels.
|
22150645 |
2012 |