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 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 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 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 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 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 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
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
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
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
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
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
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
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 25725044 2015
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
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
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.900 GeneticVariation disease BEFREE Six de novo mutations of SCN8A were detected in 6 sporadic patients with epilepsy. 28923014 2017
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 GeneticVariation disease BEFREE Epilepsy and intellectual disability are associated with rare variants in the GluN2A and GluN2B (encoded by GRIN2A and GRIN2B) subunits of the N-methyl-D-aspartate receptor (NMDAR), a ligand-gated ion channel with essential roles in brain development and function. 27839871 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 GeneticVariation disease CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 GeneticVariation disease BEFREE In this report, we provide a detailed clinical description of a sporadic male patient with early-onset epilepsy and epileptic encephalopathy in whom we performed complete exome sequencing (WES) and identified a GRIN2B mutation. 27605359 2016