Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. 28923014 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease BEFREE Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. 28518218 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE The combination of a rare missense variant with a de novo mosaic deletion of a large part of the SCN8A gene suggests that other possible mechanisms for SCN8A mutations may cause epilepsy; loss of function, genetic modifiers and cellular interference may play a role. 26220391 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE In addition, the same SCN8A variant (c.5630A > G, p. (Asn1877Ser)) is also found in patients with epilepsy and developmental delay highlighting the phenotypic variability and the possible role of other protective genetic factors. 27210545 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease BEFREE Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 26252990 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease BEFREE The identification of this new gain-of-function mutation of Nav1.6 supports the inclusion of SCN8A as a causative gene in infantile epilepsy, demonstrates a novel mechanism for hyperactivity of Nav1.6, and further expands the role of de novo mutations in severe epilepsy. 24874546 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. 25568300 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE Additional investigations will be worthwhile to determine the prevalence and contribution of SCN8A mutations to epileptic encephalopathies. 24352161 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE Additionally, certain Rbfox1 target transcripts associated with epilepsy, including glutamate receptor, ionotropic, N-methyl D-aspartate 1 [Grin1, also known as N-methyl-D-aspartate receptor subunit NR1 (NMDAR1)], synaptosomal-associated protein, 25 kDa (SNAP‑25 or Snap25) and sodium channel, voltage gated, type VIII, alpha subunit (Scn8a, also known as Nav1.6) were identified to be upregulated in these cultured cortical neurons with an upregulated Rbfox1 expression. 25571999 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13). 25239001 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25785782 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease BEFREE The Scn8a(tm) (1768DMm) mouse model will be useful for investigation of the pathogenesis and therapy of early onset seizure disorders. 24288358 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease BEFREE Together with previous reports, our study further indicates that genetic testing of SCN8A should be considered in children with unclassified severe epilepsy. 24888894 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE SCN8A is the other main adult subtype found in the brain and has recently emerged as an epilepsy gene, with the first human mutation discovered in a severe epilepsy syndrome. 22905747 2013
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE This work identifies SCN8A as the fifth sodium-channel gene to be mutated in epilepsy and demonstrates the value of WGS for the identification of pathogenic mutations causing severe, sporadic neurological disorders. 22365152 2012
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy. 21156207 2011
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease BEFREE A small number of mutations have been found in SCN2A, SCN3A and SCN9A, and studies in the mouse suggest that SCN8A may also contribute to seizure disorders. 20351042 2010
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 GeneticVariation disease BEFREE Mutations in SCN8A are associated with cognitive deficits and neuropsychiatric illness in humans and movement disorders in mice; however, a role for SCN8A (Na(v)1.6) in epilepsy has not been investigated. 17881658 2008
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease MGD
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.700 Biomarker disease HPO
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.610 Biomarker disease RGD Modification of ionotropic glutamate receptor-mediated processes in the rat hippocampus following repeated, brief seizures. 19154779 2009
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.610 Biomarker disease CTD_human Tonic facilitation of glutamate release by presynaptic NR2B-containing NMDA receptors is increased in the entorhinal cortex of chronically epileptic rats. 16407536 2006
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.610 Biomarker disease BEFREE Increased numbers of coassembled PSD-95 to NMDA-receptor subunits NR2B and NR1 in human epileptic cortical dysplasia. 15030493 2004