EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The patient phenotype is more compatible with early infantile developmental and epileptic encephalopathy (DEE) than with typical Dravet syndrome (DS), as previously diagnosed for other patients with homozygous SCN1B variants.
|
31709768 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
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 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
Biomarker
|
disease |
BEFREE |
We propose that delayed maturation of GABAergic signaling may contribute to epileptogenesis in SCN1B- and SCN1A-linked DS.
|
30996233 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that variants of SCN1B and SCN2B may not be common causes of DS according to our data.
|
30921204 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis was suggestive of SCN1B gene mutation associated with DS.
|
28681755 |
2019 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCN1B mutation is not a common cause of DS.
|
23182416 |
2013 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
Biomarker
|
disease |
BEFREE |
The identified homozygous SCN1B mutations indicate that SCN1B is an etiologic candidate underlying Dravet syndrome.
|
23148524 |
2012 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this report we aim to make the molecular analysis of the SCN1A and SCN1B genes in two Tunisian patients affected with DS.
|
21531204 |
2011 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B (p.R125C).
|
19710327 |
2009 |
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 |