TY - JOUR
T1 - Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
AU - Stromme, Petter
AU - Mangelsdorf, Marie E.
AU - Scheffer, Ingrid E.
AU - Gécz, Jozef
N1 - Funding Information:
This work was supported by The Unger-Vetlesen Medical Fund, Jersey, The Research Council of Norway and The National Health and Medical Research Council of Australia. We thank Dr Eric Haan, Department of Clinical Genetics, Women's and Children's Hospital, Adelaide, South Australia, for review of the manuscript.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
KW - ARX
KW - Aristaless related homeobox gene
KW - Dystonia
KW - Infantile spasms
KW - Seizures
KW - X-linked mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0036020705&partnerID=8YFLogxK
U2 - 10.1016/S0387-7604(02)00079-7
DO - 10.1016/S0387-7604(02)00079-7
M3 - Article
C2 - 12142061
AN - SCOPUS:0036020705
SN - 0387-7604
VL - 24
SP - 266
EP - 268
JO - Brain and Development
JF - Brain and Development
IS - 5
ER -