|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy.
|
31677917 |
2020 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Abnormal expressions of sodium channel SCN1A and SCN3A genes alter neural excitability that are believed to contribute to the pathogenesis of epilepsy, a long-term risk of recurrent seizures.
|
27816501 |
2017 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Upregulation of sodium channel SCN3A expression in epileptic tissues is known to contribute to enhancing neuronal excitability and the development of epilepsy.
|
27013471 |
2017 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
In addition to SCN1A, contiguous genes such as SCN2A and SCN3A in 2q24.3 are also reported to have contribution to epileptic seizures.
|
25843248 |
2015 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study further revealed a huge difference in electrophysiological function between SCN1A and SCN3A mutations in the pore region; this might explain the more common SCN1A mutations detected in patients with epilepsy and the more severe phenotypes associated with these mutations.
|
24990319 |
2015 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Increased expression of sodium channel SCN3A, an embryonic-expressed gene, has been identified in epileptic tissues, which is believed to contribute to the development of epilepsy.
|
25459751 |
2015 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
A literature review of cases with chromosome 2q24.3 deletion revealed that, in most Dravet syndrome cases, it does not involve SCN2A and SCN3A, whereas a complex epilepsy phenotype that is shared with migrating partial seizures of infancy was associated with cases of deletion of the whole sodium channel gene cluster.
|
25524840 |
2015 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Only one epilepsy-associated mutation has been identified in SCN3A encoding the NaV1.3 neuronal sodium channel.
|
24157691 |
2014 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.
|
24080482 |
2013 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data from the Hong Kong and Malaysia cohorts showed no significant allele, genotype and haplotype association of polymorphisms in the SCN1A, SCN2A, and SCN3A genes with drug responsiveness in epilepsy.
|
23859570 |
2013 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A.
|
21893419 |
2011 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
A small number of mutations have been found in SCN2A, SCN3A and SCN9A, and studies in the mouse suggest that SCN8A may also contribute to seizure disorders.
|
20351042 |
2010 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.
|
18784617 |
2008 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This observation of a potentially pathogenic mutation of SCN3A (Nav1.3) indicates that this gene should be further evaluated for its contribution to childhood epilepsy.
|
18242854 |
2008 |