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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS).
|
19783390 |
2009 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS).
|
24710820 |
2014 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively.
|
21204806 |
2010 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
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 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified two novel SCN2A mutations causing benign familial neonatal-infantile seizures and analysed the functional consequences of these mutations in a neonatal and an adult splice variant of the human Na(+) channel Na(V)1.2 expressed heterologously in tsA201 cells together with beta1 and beta2 subunits.
|
20371507 |
2010 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of infancy.
|
20956790 |
2010 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal-infantile seizures (BFNISs).
|
15048894 |
2004 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the voltage-gated sodium channel alpha2 subunit (SCN2A) gene on chromosome 2 were recently identified in families affected by neonatal and infantile seizures (benign familial neonatal-infantile seizures, BFNIS) with typical onset before 4 months of life.
|
16417554 |
2006 |
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS).
|
19783390 |
2009 |
Familial benign neonatal epilepsy
|
0.600 |
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 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thirty-three families fulfilled clinical criteria for benign familial neonatal epilepsy (BFNE); 27 of these families had KCNQ2 mutations, one had a KCNQ3 mutation, and two had SCN2A mutations.
|
25982755 |
2015 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Variants in the SCN2A gene cause a broad spectrum of epilepsy syndromes of variable severity including benign neonatal-infantile epilepsy (BFNIE), developmental and epileptic encephalopathies (DEE), and other neuropsychiatric disorders.
|
30144217 |
2018 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the genes KCNQ2 and SCN2A cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal-infantile epilepsy.
|
23566103 |
2013 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
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 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The known loci for benign familial neonatal/infantile seizures (BFNS/BFNIS), generalized epilepsy with febrile seizures plus (GEFS+) and the BFIS locus on chromosome 19q were excluded.
|
18479394 |
2008 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS).
|
30415926 |
2019 |
Familial benign neonatal epilepsy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
|
17386050 |
2007 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
While a causal role for these mutations cannot be directly established, these findings contribute to growing evidence that mutation of SCN2A is associated with a range of epilepsy phenotypes including severe infantile-onset epilepsy.
|
24659627 |
2014 |
Epilepsy
|
0.500 |
Biomarker
|
disease |
BEFREE |
More than 800 mutations in genes encoding neuronal NaV channels including SCN1A and SCN2A have been associated with human epilepsy.
|
24157691 |
2014 |
Epilepsy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in SCN2A are associated with various neurological disorders including epilepsy, autism spectrum disorder and intellectual disability.
|
30928199 |
2019 |