|
rs794726759
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
0.010 |
GeneticVariation |
BEFREE |
A relevant example is the pleiotropic R1648H mutation that can cause either mild GEFS+ or severe DS.
|
30659983 |
2019 |
|
rs794726752
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1
|
Infantile Severe Myoclonic Epilepsy
|
|
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
|
SCN1A;SCN1A-AS1;LOC102724058
|
Infantile Severe Myoclonic Epilepsy
|
|
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 |