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 Biomarker disease CLINGEN Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. 30779207 2019
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 Biomarker disease BEFREE Patients with this variant show a well-defined genotype-phenotype correlation and present with developmental and early infantile epileptic encephalopathy that is far more severe than typical SCN1A Dravet syndrome. 30779207 2019
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 Biomarker disease CLINGEN Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 28794249 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. 28012175 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Audit of use of stiripentol in adults with Dravet syndrome. 27231140 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. 28079314 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Pitfalls in genetic testing: the story of missed SCN1A mutations. 27465585 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Lamotrigine can be beneficial in patients with Dravet syndrome. 25243660 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR UniProt: a hub for protein information. 25348405 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR UniProt: a hub for protein information. 25348405 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease BEFREE Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients. 25204757 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. 24502503 2014
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. 23762420 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. 23821540 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. 23895530 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 GeneticVariation disease CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.420 CausalMutation disease CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012