Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE Mutations in the voltage-gated sodium channel gene SCN8A cause a broad range of human diseases, including epilepsy, intellectual disability, and ataxia. 31605437 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. 25568300 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 Biomarker disease BEFREE SCN8A is the third most prevalent early onset epileptic encephalopathy gene and is associated with two modes of onset of epilepsy. 31026061 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 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 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 Biomarker 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 2007
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE Five variants in SCN8A were identified in five individuals with epilepsy. 27875746 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 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 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE We used targeted next-generation sequencing to identify SCN8A mutations in Chinese patients with epilepsy of unknown etiology and IDDs. 25785782 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE Identification of a precise genetic etiology can direct physicians to (i) prescribe treatments that correct specific metabolic defects (e.g., the ketogenic diet for GLUT1 deficiency, or pyridoxine for pyridoxine-dependent epilepsies); (ii) avoid antiepileptic drugs (AEDs) that can aggravate the pathogenic defect (e.g., sodium channel blocking drugs in SCN1A-related Dravet syndrome), or (iii) select AEDs that counteract the functional disturbance caused by the gene mutation (e.g., sodium channel blockers for epilepsies due to gain-of-function SCN8A mutations). 30870728 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 Biomarker disease BEFREE These findings point to Scn8a as a promising therapeutic target for epilepsy and raise the possibility that aberrant overexpression of Scn8a in limbic structures may contribute to some epilepsies, including temporal lobe epilepsy. 29317669 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 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
0.900 Biomarker disease BEFREE In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies. 30968951 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 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
0.900 GeneticVariation disease BEFREE We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A. 29677576 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 Biomarker disease BEFREE Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na<sup>+</sup> channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β<sub>1</sub> , are established causes of genetic epilepsies. 29466837 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 Biomarker disease BEFREE •These data provide further insights into the mechanism of SCN8A-related epilepsy and reveal subtle but potentially important distinction of functional characterization performed in the human vs. rodent channels. 31715021 2020
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). 27659738 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 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
0.900 GeneticVariation disease BEFREE Herein, we describe 4 patients with a missense SCN8A mutation and epilepsy who all show a remarkably good response on high doses of phenytoin and loss of seizure control when phenytoin medication was reduced, while side effects were relatively mild. 26252990 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutations in SCN8A can lead to early infantile epileptic encephalopathy with a broad phenotypic spectrum. 24352161 2014
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability. 31174070 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a de novo heterozygous missense mutation of SCN8A. 30078772 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 Biomarker disease BEFREE To characterize a cohort of patients with SCN8A-related epilepsy and to perform analyses to identify correlations involving the acquisition of neurodevelopmental skills. 31335965 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R1620L, A1622D). 30615093 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 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