|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs121917971
|
|
|
0.010 |
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 |
|
rs121918799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of SCN1A revealed a heterozygous de novo frameshift mutation (c.4205_4208delGAAA) in the patient with DS, and a recurrent missense mutation (c.3521C>G) in that suffering from MAE.
|
21396429 |
2011 |
|
rs398123588
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the novel voltage sensor mutants R859H (GEFS+) and R865G (DS) produced sodium current densities similar to those in wild-type channels.
|
21864321 |
2011 |
|
rs121917935
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome.
|
20562086 |
2010 |
|
rs121918791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Similar selectivity was observed for ranolazine block of increased persistent current exhibited by Na(V) 1.1 channel mutations representing three distinct clinical syndromes, generalized epilepsy with febrile seizures plus (R1648H, T875M), severe myoclonic epilepsy of infancy (R1648C, F1661S) and familial hemiplegic migraine type 3 (L263V, Q1489K).
|
20735403 |
2010 |