Disease: X-linked infantile spasms ×
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 UniProt: a hub for protein information. 25348405 2015
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613 2012
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
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 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003