Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Strømme, Petter, Mangelsdorf, Marie E., Scheffer, Ingrid E. and Gécz, Jozef (2002) Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain & Development, 24 5: 266-268. doi:10.1016/S0387-7604(02)00079-7


Author Strømme, Petter
Mangelsdorf, Marie E.
Scheffer, Ingrid E.
Gécz, Jozef
Title Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Journal name Brain & Development   Check publisher's open access policy
ISSN 0387-7604
Publication date 2002-01-01
Year available 2002
Sub-type Article (original research)
DOI 10.1016/S0387-7604(02)00079-7
Open Access Status DOI
Volume 24
Issue 5
Start page 266
End page 268
Total pages 3
Place of publication Amsterdam
Publisher Elsevier
Language eng
Subject 11 Medical and Health Sciences
0604 Genetics
1103 Clinical Sciences
Abstract Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense, and deletion mutations) in the Aristaless related homeobox gene, ARX, were analysed. Seizures were observed with all mutations and occurred in 29 patients, including one family with a novel myoclonic epilepsy syndrome associated with the missense mutation. Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism. These data suggest that mutations in the ARX gene are important causes of MR, often associated with diverse neurological manifestations. (C) 2002 Elsevier Science B.V. All rights reserved.
Keyword Clinical Neurology
Aristaless Related Homeobox Gene
Arx
Dystonia
Infantile Spasms
Seizures
X-linked Mental Retardation
Mental-retardation
Linkage
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
Queensland Brain Institute Publications
 
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Created: Mon, 13 Aug 2007, 23:07:38 EST