Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 Biomarker disease BEFREE In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies. 30968951 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE SCN8A variants were identified via an exome-based panel of epilepsy-associated genes for next generation sequencing (NGS), or via exome sequencing. 31402610 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE We identified three de novo epilepsy-related gene mutations, including missense mutations of SCN1A (c. 5399 T > A; p. Val1800Asp), SCN8A (c. 2371 G > T; p. Val791Phe), and CLCN2 (c. 481 G > A; p. Gly161Ser), from three patients, separately. 31054517 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. 29432985 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE Here, we demonstrate the feasibility of a more comprehensive approach using high-throughput screening to identify inhibitors of a gain-of-function mutation in the SCN8A gene associated with severe pediatric epilepsy. 29574705 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE Five variants in SCN8A were identified in five individuals with epilepsy. 27875746 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE Six de novo mutations of SCN8A were detected in 6 sporadic patients with epilepsy. 28923014 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
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
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 Biomarker disease GENOMICS_ENGLAND Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes. 26677014 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 Biomarker disease GENOMICS_ENGLAND Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes. 26677014 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.900 GeneticVariation disease BEFREE SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. 25568300 2015