Disease: Absence Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.010 GeneticVariation phenotype 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