|
Lissencephaly
|
0.300 |
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 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR.
|
23583063 |
2013 |
|
Lissencephaly
|
0.300 |
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 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly.
|
20384723 |
2010 |
|
Lissencephaly
|
0.300 |
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 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
LHGDN |
Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrome (PRTS), X-linked infantile spasms (ISSX), myoclonic epilepsy with spasticity and mental retardation (XMESID), and nonspecific mental retardation (NS-XLMR).
|
18975239 |
2009 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
MGD |
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
|
19605412 |
2009 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
BEFREE |
Thus, the TUBA1A phenotype is distinct from LIS1, DCX, RELN and ARX lissencephalies.
|
18669490 |
2008 |
|
Lissencephaly
|
0.300 |
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 |
|
Lissencephaly
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.
|
15376319 |
2004 |
|
Lissencephaly
|
0.300 |
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 |
|
Lissencephaly
|
0.300 |
Biomarker
|
disease |
MGD |
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
|
12379852 |
2002 |