Fondation de France, and the Swedish Medical Research Council. The participants of the Paris Autism Research International Sibpair (PARIS) Study are ,
Marion Leboyer; Service de Psychopathologie de l'Enfant et l'Adolescent ,
Sweden: Department of Child and Adolescent Psychiatry ,
Coleman; Children's National Medical Center ,
Philip L. Pearl; New York State Institute for Basic Research in Developmental Disabilities ,
Centre de Génétique Humaine ,
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation, Hum Mol Genet, vol.11, pp.981-991, 2002. ,
Identification of MeCP2 mutations in a series of females with autistic disorder, Pediatric Neurology, vol.28, issue.3, pp.205-211, 2003. ,
DOI : 10.1016/S0887-8994(02)00624-0
Early onset seizures and Rett-like features associated with mutations in CDKL5, European Journal of Human Genetics, vol.55, issue.10, pp.1113-1120, 2005. ,
DOI : 10.1080/080352501750064842
The role of ARX in cortical development, European Journal of Neuroscience, vol.132, issue.4, pp.869-876, 2006. ,
DOI : 10.1111/j.1460-9568.2006.04629.x
The Biology of the Autistic Syndromes, 2000. ,
Screening of the ARX gene in 682 retarded males, European Journal of Human Genetics, vol.12, issue.9, pp.701-705, 2004. ,
DOI : 10.1038/sj.ejhg.5201222
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism, Nature Genetics, vol.34, issue.1, pp.27-29, 2003. ,
DOI : 10.1038/ng1136
URL : https://hal.archives-ouvertes.fr/inserm-00124744
Mutations ofARX are associated with striking pleiotropy and consistent genotype-phenotype correlation, Human Mutation, vol.108, issue.2, pp.147-159, 2004. ,
DOI : 10.1002/humu.10310
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans, Nature Genetics, vol.13, issue.3, pp.359-369, 2002. ,
DOI : 10.1038/ng1009
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5, pp.659-685, 1994. ,
DOI : 10.1007/BF02172145
The ARX mutations: a frequent cause of X-linked mental retardation, Am J Med Genet A, vol.140, pp.727-732, 2006. ,
Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis, Neurogenetics, vol.112, issue.1, pp.39-46, 2006. ,
DOI : 10.1007/s10048-005-0014-0
X-linked creatine transporter defect: an overview, Journal of Inherited Metabolic Disease, vol.26, issue.2, pp.309-318, 2003. ,
DOI : 10.1023/A:1024405821638
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes, Current Opinion in Pediatrics, vol.15, issue.6, pp.567-571, 2003. ,
DOI : 10.1097/00008480-200312000-00004
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX, Brain and Development, vol.24, issue.5, pp.266-268, 2002. ,
DOI : 10.1016/S0387-7604(02)00079-7
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy, Nature Genetics, vol.30, issue.4, pp.441-445, 2002. ,
DOI : 10.1038/ng862
The phenotypic spectrum of ARX mutations, Developmental Medicine & Child Neurology, vol.65, issue.2, pp.133-137, 2005. ,
DOI : 10.1111/j.1469-8749.2005.tb01102.x
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identicalARX gene mutation, American Journal of Medical Genetics, vol.30, issue.4, pp.405-411, 2002. ,
DOI : 10.1002/ajmg.10714
AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER, Annual Review of Genomics and Human Genetics, vol.5, issue.1, pp.379-405, 2004. ,
DOI : 10.1146/annurev.genom.5.061903.180050
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism, Molecular Psychiatry, vol.38, issue.1, pp.18-28, 2006. ,
DOI : 10.1038/sj.mp.4001757
Chromosomal abnormalities in a clinic sample of individuals with autistic disorder, Psychiatric Genetics, vol.11, issue.2, pp.57-63, 2001. ,
DOI : 10.1097/00041444-200106000-00001
Association of Duchenne Muscular Dystrophy With Autism Spectrum Disorder, Journal of Child Neurology, vol.23, issue.10, pp.790-795, 2005. ,
DOI : 10.1177/08830738050200100201
Study of MECP2 gene in Rett syndrome variants and autistic girls, Am J Med Genet B Neuropsychiatr Genet, vol.119, pp.102-107, 2003. ,