|
Familial benign neonatal epilepsy
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
|
30712878 |
2019 |
|
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 |
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 |
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
|
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 |
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 |
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 |
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 |
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 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 |
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 and benign familial neonatal-infantile seizures: the phenotypic spectrum.
|
17386050 |
2007 |
|
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 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A.
|
12243921 |
2002 |