ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
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 		0.700 GeneticVariation disease BEFREE Early infantile epileptic encephalopathy (EIEE1; OMIM #308350) is the earliest of these age-dependent encephalopathies, manifesting as tonic spasms, myoclonic seizures, or partial seizures, with severely abnormal electroencephalogram, often showing a suppression-burst pattern. 29961512 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CLINGEN Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 29655203 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CLINGEN Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. 29924869 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. 29778428 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease BEFREE The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity. 28602636 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CLINGEN Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CLINGEN Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. 29190809 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		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
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CLINGEN CDKL5 and ARX mutations in males with early-onset epilepsy. 23583054 2013
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). 21967765 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE STXBP1 and ARX mutations have been reported in patients with OS. 22709267 2012
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE Reviewing records of patients with ARX mutations, infantile epilepsies, and psychomotor retardation, we analyzed a family harboring a novel ARX mutation with different phenotypes in males and females, including Ohtahara syndrome. 21426321 2011
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE The most frequent ARX mutation found to date in patients with X-linked infantile spasms, Partington syndrome or X-linked mental retardation, is a duplication of 24 bp in exon 2, resulting in the expansion of the second polyA tract. 21204226 2011
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy. 19747203 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease BEFREE This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations. 21108397 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease BEFREE The etiology of Ohtahara syndrome is heterogeneous; however, the molecular analysis of ARX should be considered in sporadic or familial male patients with Ohtahara syndrome. 20384723 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 19738637 2010
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		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
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CLINGEN Expansion of the ARX spectrum. 18462864 2008
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE However, electroclinical descriptions in patients with ISSX carrying ARX mutations are scarce. 18468866 2008
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 17668384 2007
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GermlineCausalMutation disease ORPHANET Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation. 17641262 2007
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE Mutations in the Aristaless-related homeobox gene (ARX) have been recognized as a cause of X-linked infantile spasms and sporadic cryptogenic infantile spasms. 15021241 2004
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 GeneticVariation disease BEFREE This disorder is allelic with X-linked infantile spasms (ISSX; MIM 308350) where polyalanine tract expansions are the commonly observed molecular defect. 12177367 2002