|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
|
29844171 |
2018 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in SCN2A, encoding the brain sodium channel NaV 1.2, have been described in benign familial neonatal-infantile seizures (BFNIS), a self-limiting disorder, whereas several SCN2A de novo nonsense mutations have been found in patients with more severe phenotypes including epileptic encephalopathy.
|
23758435 |
2013 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN2A, the gene encoding α2 subunit of the neuronal sodium channel, are associated with a variety of epilepsies: benign familial neonatal-infantile seizures (BFNIS); genetic epilepsy with febrile seizures plus (GEFS+); Dravet syndrome (DS); and some intractable childhood epilepsies.
|
22029951 |
2012 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
|
17386050 |
2007 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
|
29186148 |
2017 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
|
24579881 |
2014 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS).
|
24710820 |
2014 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS).
|
18479388 |
2008 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
|
15028761 |
2004 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
CLINVAR |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
|
27781031 |
2016 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.
|
20371507 |
2010 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
|
26291284 |
2015 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Sodium-channel defects in benign familial neonatal-infantile seizures.
|
12243921 |
2002 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS).
|
18479388 |
2008 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
|
27867041 |
2017 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis.
|
15048894 |
2004 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24.
|
22399141 |
2012 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
SCN2A mutations appear specific for BFNIS; the disorder can now be strongly suspected clinically and the families can be given an excellent prognosis.
|
15048894 |
2004 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
De novo R853Q mutation of SCN2A gene and West syndrome.
|
25772804 |
2015 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset.
|
23360469 |
2013 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
BEFREE |
The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is not specifically associated with BFNIS and is also involved in families with a delayed age of onset.
|
23360469 |
2013 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
|
19786696 |
2009 |