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 CausalMutation disease CLINVAR Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. 21719429 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Genotype-phenotype associations in SCN1A-related epilepsies. 21248271 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. 21864321 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. 21371021 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker disease GENOMICS_ENGLAND Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. 21555645 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 21703448 2011
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy). 20729507 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Timing of de novo mutagenesis--a twin study of sodium-channel mutations. 20879882 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. 20431604 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. 20491869 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. 20522430 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI). 20110217 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients. 20452746 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. 19563458 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation 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: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. 19589774 2010
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker disease GENOMICS_ENGLAND Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 19332696 2009
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 CausalMutation disease CLINVAR Parental SCN1A mutation mosaicism in familial Dravet syndrome. 19673951 2009
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. 19783390 2009
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease UNIPROT Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. 18930999 2009