Disease: Epilepsy, Reflex ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex 		0.010 GeneticVariation disease BEFREE To our knowledge, this mutation has not been previously described in the SCN1A gene and this is the first report of epilepsy related to SCN1A mutation as a presenting with reflex epilepsy of somatosensory stimuli. 27889818 2017