Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 29655203 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 29924869 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. 29190809 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 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, 1
0.700 Biomarker disease CLINGEN Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. 25951140 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 26029707 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR The genetic landscape of infantile spasms. 24781210 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 23246292 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Novel mutation in ARX associated with early hand preference and a mild phenotype. 22922607 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 21204215 2011
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR ARX spectrum disorders: making inroads into the molecular pathology. 20506206 2010
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 19507262 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. 19606478 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 19439424 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 Biomarker disease CLINGEN Expansion of the ARX spectrum. 18462864 2008
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. 17331656 2007
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 17490853 2007
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 16235064 2006
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 15726411 2005
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. 15533998 2004
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
0.700 CausalMutation disease CLINVAR Polyalanine expansion of ARX associated with cryptogenic West syndrome. 12874418 2003