Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
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
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE The aim of the study was to explore the effect of SCN1A and SCN2A gene polymorphisms on VPA response in the treatment of epilepsy among Chinese patients. 30693367 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE For SCN2A polymorphism c.56 G > A rs17183814, one hundred patients with epilepsy who were receiving lamotrigine in monotherapy and seventy-one age and sex matched healthy controls were genotyped using TaqMan assay. 31707316 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE These findings suggest that impaired cortico-striatal excitatory transmission is a plausible mechanism that triggers epilepsy in Stxbp1 and Scn2a haplodeficient mice. 31015467 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease 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
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A). 28837158 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE This study demonstrated a significant association between the <i>SCN1A (3184 AG</i> and <i>GG)</i> and <i>SCN2A (56GA</i> and <i>AA)</i> genotype with CBZ-nonresponsive epilepsy. 30538486 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). 29625812 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE The SCN2A gene encoding α2 subunit of the neuronal sodium channel has been reported to be associated with BFNIS, GFES+, Dravet syndrome and some intractable childhood epilepsies. 29635106 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE Therefore, this study demonstrated that FOXD3 is a trans-acting factor of SCN2A, and this mechanism may play a role in cell injury after epilepsy. 29288635 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE Integration of biological/pathophysiological contexts to help clarify genotype-phenotype mismatches in monogenetic diseases. Childhood epilepsies associated with SCN2A as a case study. 29307654 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE Our findings broaden the clinical spectrum of SCN2A mutations, which resembles clinical phenotypes of SCN1A mutations by manifesting as fever sensitive seizures, and highlights that SCN2A mutations are an important cause of early-onset epileptic encephalopathies with movement disorders. 28709814 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years. 27153334 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE The patient findings expand the phenotype spectrum of SCN2A mutations to epileptic encephalopathies with macroscopic brain developmental features. 28254201 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy. 28379373 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. 26138355 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE Polymorphisms of ABAT, SCN2A and ALDH5A1 may affect valproic acid responses in the treatment of epilepsy in Chinese. 27918244 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE We argue that very rare, LoF mutations at SCN2A act in a moderately penetrant manner to increase the risk of developing several neuropsychiatric disorders including seizure disorders, ID, autism and schizophrenia. 26555645 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 26645390 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE Scn2a(Q54) phenotype severity varies depending on the genetic strain background, making it a useful model for identifying and characterizing epilepsy modifier genes. 27112236 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 Biomarker disease BEFREE In addition to SCN1A, contiguous genes such as SCN2A and SCN3A in 2q24.3 are also reported to have contribution to epileptic seizures. 25843248 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 GeneticVariation disease BEFREE De novo SCN2A mutations have recently been associated with severe infantile-onset epilepsies. 26291284 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
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