Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Data(s) |
01/01/2002
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Resumo |
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. |
Identificador | |
Idioma(s) |
eng |
Publicador |
Elsevier |
Palavras-Chave | #Clinical Neurology #Aristaless Related Homeobox Gene #Arx #Dystonia #Infantile Spasms #Seizures #X-linked Mental Retardation #Mental-retardation #Linkage #11 Medical and Health Sciences #0604 Genetics #1103 Clinical Sciences |
Tipo |
Journal Article |