Please use this identifier to cite or link to this item: 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
Appears in Collections:Aurora harvest
Paediatrics publications

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