Please use this identifier to cite or link to this item: http://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 & Development, 2002; 24(5):266-268
Publisher: Elsevier Science BV
Issue Date: 2002
ISSN: 0387-7604
1872-7131
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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
RMID: 0020020515
DOI: 10.1016/S0387-7604(02)00079-7
Appears in Collections:Paediatrics publications

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