Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. 28079314 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Audit of use of stiripentol in adults with Dravet syndrome. 27231140 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Lamotrigine can be beneficial in patients with Dravet syndrome. 25243660 2015
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
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
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR UniProt: a hub for protein information. 25348405 2015
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
0.700 CausalMutation CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
0.700 CausalMutation CLINVAR Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. 21719429 2011
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
0.700 CausalMutation CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR A catalog of SCN1A variants. 18804930 2009
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR A screening test for the prediction of Dravet syndrome before one year of age. 18076640 2008
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
0.700 CausalMutation CLINVAR
Migraine, Familial Hemiplegic, 3
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
0.700 CausalMutation CLINVAR