Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures
0.200 Biomarker phenotype BEFREE Lacosamide for SCN2A-related intractable neonatal and infantile seizures. 30361185 2018
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures
0.200 GeneticVariation phenotype BEFREE Two individuals with SCN2A mutations were identified with seizures in later life. 17386050 2007
CUI: C0036572
Disease: Seizures
Seizures
0.200 GeneticVariation phenotype LHGDN Two individuals with SCN2A mutations were identified with seizures in later life. 17386050 2007
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures
0.200 GeneticVariation phenotype BEFREE A novel SCN2A mutation in family with benign familial infantile seizures. 16417554 2006
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures
0.200 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.200 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.200 Biomarker phenotype HPO