Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE De novo mutations of the sodium channel gene SCN8A result in an epileptic encephalopathy with refractory seizures, developmental delay, and elevated risk of sudden death. p.Arg1872Trp is a recurrent de novo SCN8A mutation reported in 14 unrelated individuals with epileptic encephalopathy that included seizure onset in the prenatal or infantile period and severe verbal and ambulatory comorbidities. 30601941 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. 31625145 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. 31672125 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 Biomarker disease BEFREE Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. 31675620 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 Biomarker disease BEFREE Prax330 reduces persistent and resurgent sodium channel currents and neuronal hyperexcitability of subiculum neurons in a mouse model of SCN8A epileptic encephalopathy. 31278928 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 Biomarker disease BEFREE Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy. 31174070 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE Early-onset epileptic encephalopathy with de novo SCN8A mutation. 29128679 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE To delineate the electroclinical features of <i>SCN8A</i> infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). 30171078 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 Biomarker disease BEFREE This case shows that paroxysmal non-epileptic episodes of severe tremor and hyperekplexia-like startles and a striking vegetative component can be the first early symptoms of severe SCN8A developmental and epileptic encephalopathy. 30078772 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE De novo mutations of SCN8A, encoding the voltage-gated sodium channel Na<sub>V</sub> 1.6, have been associated with a severe infant onset epileptic encephalopathy. 29782051 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. 29121005 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE We identified a novel de novo SCN8A mutation (p.Phe360Ala, c.1078_1079delTTinsGC, Exon 9) in a 6-year-old girl with epileptic encephalopathy accompanied by severe juvenile osteoporosis and multiple skeletal fractures, similar to three previous case reports. 28676440 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 Biomarker disease BEFREE SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. 27659738 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE Mutations in SCN8A, coding for the voltage-gated sodium channel Nav 1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment, in particular early onset epileptic encephalopathy (EIEE) type 13. 27210545 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE We previously described the heterozygous SCN8A missense mutation p.Asn1768Asp in a child with epileptic encephalopathy that included seizures, ataxia, and sudden unexpected death in epilepsy (SUDEP). 25227913 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE We described a person with epileptic encephalopathy associated with a mosaic deletion of the SCN8A gene. 26220391 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE We describe a novel de novo mutation of SCN8A in a patient with epileptic encephalopathy, and functional characterization of the mutant protein. 25239001 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. 24888894 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE Our goal was to generate a model of early onset epileptic encephalopathy by introduction of the Scn8a missense mutation p.Asn1768Asp. 24288358 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. 24352161 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease BEFREE De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 22365152 2012
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 CausalMutation disease CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.200 GeneticVariation disease CLINVAR