Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | CLINVAR | |||||||
|
0.180 | Biomarker | disease | HPO | |||||||
|
0.180 | CausalMutation | disease | CLINVAR | |||||||
|
0.180 | 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 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. | 27867041 | 2017 | ||||
|
0.180 | 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 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Our study on the functional consequences of SCN2A variants causing the distinct phenotypes of EE, BFNIE and ID contributes to the elucidation of mechanisms underlying the broad phenotypic variability reported for SCN2A variants. | 30813884 | 2019 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features. | 28709814 | 2017 | ||||
|
0.180 | Biomarker | disease | BEFREE | These data validate the utility of XHMM and support that SCN2A is involved in the pathogenic processes underlying epileptic encephalopathy in childhood. | 29929112 | 2018 | ||||
|
0.180 | Biomarker | disease | BEFREE | Twelve patients with an SCN2A epileptic encephalopathy underwent electroclinical phenotyping. | 26291284 | 2015 | ||||
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0.180 | Biomarker | disease | BEFREE | Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI. | 28254201 | 2017 |