Disease: X-linked infantile spasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR SCN1A mutational analysis in Korean patients with Dravet syndrome. 21868258 2011
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. 20562086 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. 20550552 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR A catalog of SCN1A variants. 18804930 2009
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR A catalog of SCN1A variants. 18804930 2009
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR A screening test for the prediction of Dravet syndrome before one year of age. 18076640 2008
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 16541393 2006
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Sodium channel mutations in epilepsy and other neurological disorders. 16075041 2005
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421 2004
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). 12576172 2003
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 11940708 2002
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. 11254444 2001