Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
- 30 June 2009
- journal article
- case report
- Published by Elsevier BV in Brain & Development
- Vol. 31 (6), 469-472
- https://doi.org/10.1016/j.braindev.2008.08.006
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
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- Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutationEuropean Journal of Pediatrics, 2005
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- Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansNature Genetics, 2002
- Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARXBrain & Development, 2002
- ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationHuman Molecular Genetics, 2002
- Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyNature Genetics, 2002
- Confirmation of linkage in X‐linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3‐Xp22.1Clinical Genetics, 1999
- The phenotypic spectrum of ARX mutationsDevelopmental Medicine and Child Neurology, 1999