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https://hdl.handle.net/2440/7052
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Type: | Journal article |
Title: | Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX |
Author: | Stromme, P. Mangelsdorf, M. Scheffer, I. Gecz, J. |
Citation: | Brain and Development, 2002; 24(5):266-268 |
Publisher: | Elsevier Science BV |
Issue Date: | 2002 |
ISSN: | 0387-7604 1872-7131 |
Statement of Responsibility: | Strømme, Petter ; Mangelsdorf, Marie E ; Scheffer, Ingrid E ; Gécz, Jozef |
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. |
Keywords: | X Chromosome Humans Epilepsies, Myoclonic Spasms, Infantile Seizures Ataxia Dystonia Autistic Disorder Phenotype Mutation Mutation, Missense Genes, Homeobox Infant Male Intellectual Disability |
DOI: | 10.1016/S0387-7604(02)00079-7 |
Published version: | http://dx.doi.org/10.1016/s0387-7604(02)00079-7 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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