Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In some instances, different pathogenic variants of the same gene can have opposite functional effects, which determines whether certain treatments can be beneficial or deleterious (e.g., gain-of-function versus loss-of-function variants in SCN2A determine whether sodium channel blockers improve or worsen seizure control).
|
30870728 |
2019 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
As far as we are aware our case is the youngest patient with SCN2A mutation treated with KD with complete resolution of epilepsy at an early age and has been seizure free of antiepileptic medications for a long duration.
|
30415926 |
2019 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage.
|
28817111 |
2018 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In this study, 48 patients suffered from epilepsy or severe seizures with SCN1A and SCN2A mutations were recruited.
|
29649454 |
2018 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Lacosamide for SCN2A-related intractable neonatal and infantile seizures.
|
30361185 |
2018 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Opposing Effects on Na<sub>V</sub>1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
|
28256214 |
2017 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Classical analysis of EEG and ECG recordings separately showed significantly decreased seizure durations in Scn2a+/-; Kcna1-/- mice compared with Kcna1-/- mice, without substantial modification of cardiac abnormalities.
|
28334922 |
2017 |
Seizures
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
Scn2a(Q54) mice exhibited increased spontaneous seizure frequency with elevated Cacna1g expression and decreased seizure frequency with decreased Cacna1g expression.
|
27112236 |
2016 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Most had KCNQ2 mutations, but two families had SCN2A mutations, which are normally associated with a mixed picture of neonatal and infantile onset seizures.
|
25982755 |
2015 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in KCNQ2 and SCN2A also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co-occur.
|
23566103 |
2013 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Scn2a(Q54) transgenic mice have a mutation in Scn2a that results in spontaneous, adult-onset partial motor seizures, and mice carrying the Kcnq2-V182M mutation exhibit increased susceptibility to induced seizures, and rare spontaneous seizures as adults.
|
21156207 |
2011 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Two individuals with SCN2A mutations were identified with seizures in later life.
|
17386050 |
2007 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
Two individuals with SCN2A mutations were identified with seizures in later life.
|
17386050 |
2007 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Further studies are needed to investigate if possible polymorphic variants of SCN2A gene may influence seizures susceptibility of idiopathic generalized epilepsy with tonic-clonic seizures.
|
17715289 |
2007 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Furthermore, mutations in the voltage-gated sodium channel alpha-1, alpha-2 and beta-1 subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor gamma-2 subunit gene (GABRG2) have been identified in families with a clinical subset of seizures termed "generalized epilepsy with febrile seizure plus (GEFS+)".
|
16887333 |
2006 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A novel SCN2A mutation in family with benign familial infantile seizures.
|
16417554 |
2006 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features.
|
16822249 |
2006 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In 19 unrelated Japanese families whose probands had febrile seizures plus or epilepsy following febrile seizures plus, we identified 2 missense mutations of SCN1A to be responsible for the seizure phenotypes in two FS+ families and another mutation of SCN2A in one family.
|
16884893 |
2006 |
Seizures
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We excluded SCN1A, SCN1B, and GABRG2 genes with linkage analysis in a large pedigree and directly sequenced SCN2A in a family with neonatal-infantile seizures onset.
|
14738422 |
2004 |
Seizures
|
0.200 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Seizures
|
0.200 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Seizures
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|