Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
|
29655203 |
2018 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
|
29924869 |
2018 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
|
29056246 |
2017 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
|
29190809 |
2017 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
STXBP1 and ARX mutations have been reported in patients with OS.
|
22709267 |
2012 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
|
22196487 |
2012 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
ARX spectrum disorders: making inroads into the molecular pathology.
|
20506206 |
2010 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
|
19738637 |
2010 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
|
19439424 |
2009 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
CLINGEN |
Expansion of the ARX spectrum.
|
18462864 |
2008 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
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 |
Early infantile epileptic encephalopathy with suppression bursts
|
0.780 |
Biomarker
|
disease |
MGD |
|
|
|