Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 GeneticVariation group BEFREE Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. 30968951 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 Biomarker group BEFREE SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. 29677576 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 GeneticVariation group BEFREE The data support the view that gain-of-function mutations of SCN8A lead to pathogenic alterations in brain function contributing to encephalopathy. 27836728 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 Biomarker group 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
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 GeneticVariation group BEFREE Additional investigations will be worthwhile to determine the prevalence and contribution of SCN8A mutations to epileptic encephalopathies. 24352161 2014
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 GeneticVariation group BEFREE Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13). 25239001 2014
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.160 Biomarker group HPO