Disease: Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 GeneticVariation disease BEFREE We identified a de novo mosaic deletion of exons 2-14 of SCN8A, and a rare maternally inherited missense variant on the other allele in a woman presenting with absence seizures, challenging behavior, intellectual disability and QRS-fragmentation on the ECG.We also found a variant in SCN5A. 26220391 2015
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 Biomarker disease BEFREE The abnormal EEG patterns in heterozygous mutant mice and the influence of genetic background on SWD make SCN8A an attractive candidate gene for common human absence epilepsy, a genetically complex disorder. 19254928 2009