Disease: Early Infantile Epileptic Encephalopathy 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker disease MGD Severe peri-ictal respiratory dysfunction is common in Dravet syndrome. 29329111 2018
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." 26096185 2015
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker disease MGD Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. 24152123 2014
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. 24168886 2014
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR The SCN1A gene variants and epileptic encephalopathies. 23884151 2013
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. 23086956 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations. 22150645 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. 22151702 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker disease MGD Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. 22914087 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Acute encephalopathy in children with Dravet syndrome. 22092154 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Early clinical features in Dravet syndrome patients with and without SCN1A mutations. 22071555 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy. 23195492 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Progressive gait deterioration in adolescents with Dravet syndrome. 22409937 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. 22780858 2012
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR [Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. 21425109 2011