Infantile Severe Myoclonic Epilepsy
|
0.400 |
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 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We propose that delayed maturation of GABAergic signaling may contribute to epileptogenesis in SCN1B- and SCN1A-linked DS.
|
30996233 |
2019 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
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 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis was suggestive of SCN1B gene mutation associated with DS.
|
28681755 |
2019 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
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 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SCN1B mutation is not a common cause of DS.
|
23182416 |
2013 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The identified homozygous SCN1B mutations indicate that SCN1B is an etiologic candidate underlying Dravet syndrome.
|
23148524 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
The identified homozygous SCN1B mutations indicate that SCN1B is an etiologic candidate underlying Dravet syndrome.
|
23148524 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Dravet syndrome: a genetic epileptic disorder.
|
23093055 |
2012 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
The genetics of Dravet syndrome.
|
21463275 |
2011 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
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 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B (p.R125C).
|
19710327 |
2009 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here we report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B (p.R125C).
|
19710327 |
2009 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations of voltage-gated sodium channel genes SCN1A, SCN2A, and SCN1B have been identified in several types of epilepsies including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI).
|
16806834 |
2006 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
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 |
Infantile Severe Myoclonic Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy.
|
12083760 |
2002 |