Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Epileptic Encephalopathy, Early Infantile, 4
0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Epileptic Encephalopathy, Early Infantile, 4
0.710 Biomarker disease BEFREE The aim of this study has been to understand how munc18-1 haploinsufficiency causes cognitive impairment seen in EIEE-4. 29217410 2018
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. 27069701 2016
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. 25418441 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. 25497044 2015
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation. 24315539 2014
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR The genetic landscape of infantile spasms. 24781210 2014
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? 24189369 2014
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. 24170257 2014
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 23409955 2013
Epileptic Encephalopathy, Early Infantile, 4
0.710 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Epileptic Encephalopathy, Early Infantile, 4
0.710 CausalMutation disease CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013