|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Though the physiopathological mechanisms of epilepsy in MCD patients remain poorly elucidated, research during the past decade highlighted the contribution of some factors that will be reviewed in this paper and that include: (i) the genes that caused the malformation, that can be responsible for a significant reduction of inhibitory cells (e.g., ARX gene) or be inducing cell-autonomous epileptogenic changes in affected neurons (e.g., mutations on the mTOR pathway); (ii) the alteration of cortical networks development induced by the malformation that will also involve adjacent or distal cortical areas apparently sane so that the epileptogenic focus might be more extended that the malformation or even localized at distance from it; (iii) the normal developmental processes that would influence and determine the onset of epilepsy in MCD patients, particularly precocious in most of the cases.
|
30983952 |
2019 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24 bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy.
|
29659809 |
2018 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders.
|
28103279 |
2017 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Analysing genes deregulated in either or both mutant strains, we identified 12% as implicated in ID, epilepsy and autism (99/858), with ∼5% of them as putative or known direct targets of ARX transcriptional regulation.
|
27798109 |
2016 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
FOXG1 syndrome is as an epileptic-dyskinetic encephalopathy whose clinical presentation bears similarities with ARX- and STXBP1-gene related encephalopathies.
|
26344814 |
2016 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, our data demonstrate that some of the neurobehavioral features found in patients with ARX mutations may not be due to on-going seizures, as is often postulated, given that epilepsy was eliminated as a confounding variable in these behavior analyses.
|
24794919 |
2015 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Protein-coding mutations in the transcription factor-encoding gene ARX cause various forms of intellectual disability (ID) and epilepsy.
|
26337422 |
2015 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings confirm the role of ARX in the pathogenesis of early epilepsy and underline the importance of screening of the ARX gene in both male and female subjects with otherwise unexplained early onset epileptic encephalopathy.
|
23039062 |
2013 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys.
|
23583054 |
2013 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have studied altered ARX carrying various polyA elongations in individuals with XLID and/or epilepsy.
|
23246292 |
2013 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, hydrocephaly, West syndrome, Partington syndrome, and X-linked intellectual disability with or without epilepsy.
|
22252899 |
2012 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened for both ARX polyA expansions in 98 unrelated patients selected for the presence of NR associated with different types of epilepsy and/or with hand dystonia.
|
21204215 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ARX mutations are associated with various forms of epilepsy, developmental delay, and ambiguous genitalia in humans.
|
21426321 |
2011 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aristaless-related homeobox (ARX) gene mutations cause a diverse spectrum of disorders of the human brain, including lissencephaly, various forms of epilepsy and non-syndromic mental retardation.
|
19738637 |
2010 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data indicate Arx plays multiple roles in forebrain development, both dependent and independent of Dlx1/2, and thus provides further insights into the understanding of the mechanisms underlying the pathology of mental retardation and epilepsy phenotypes resulting from ARX mutations.
|
18799476 |
2008 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy.
|
17044103 |
2007 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms.
|
16806828 |
2006 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome).
|
16015284 |
2005 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, analysis of the ARX gene should not only be considered in male patients with typical features of XLAG but also in those presenting with early onset epilepsy, ACC, and abnormal genitalia without obvious neuroradiological features of lissencephaly.
|
15248097 |
2004 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons.
|
15376319 |
2004 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Early this year, an X-chromosome-linked, Aristaless-related, homeobox gene, ARX, was found to be associated with both X-linked MR and epilepsy.
|
12689693 |
2003 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.
|
11889467 |
2002 |