Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.700 CausalMutation CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585 2016
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
0.700 CausalMutation CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.700 CausalMutation CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
0.700 CausalMutation CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006