Epilepsy in autism spectrum disorders. Eur Child Adolesc Psychiatry, pp.61-66, 2007. ,
Risk and Correlates of Autism Spectrum Disorder in Children With Epilepsy: A Community-Based Study, Journal of Child Neurology, vol.26, issue.5, pp.540-547, 2011. ,
DOI : 10.1177/0883073810384869
Psychiatric Disorders in Children and Adolescents With Mental Retardation and Active Epilepsy, Archives of Neurology, vol.53, issue.9, pp.904-912, 1996. ,
DOI : 10.1001/archneur.1996.00550090114017
The Prevalence of Autistic Spectrum Disorder in Children Surveyed in a Tertiary Care Epilepsy Clinic, Epilepsia, vol.53, issue.9, pp.1970-1977, 2005. ,
DOI : 10.1076/1380-3395(200010)22:5;1-9;FT554
Frequent association of autism spectrum disorder in patients with childhood onset epilepsy, Brain and Development, vol.32, issue.9, pp.759-763, 2010. ,
DOI : 10.1016/j.braindev.2010.05.005
Epidemiology of Pervasive Developmental Disorders, Pediatric Research, vol.364, issue.6, pp.591-598, 2009. ,
DOI : 10.1203/PDR.0b013e31819e7203
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification, Journal of Autism and Developmental Disorders, vol.117, issue.8411, pp.103-116, 2005. ,
DOI : 10.1007/s10803-004-1038-2
Trends, perinatal characteristics, and medical conditions in pervasive developmental disorders, Developmental Medicine & Child Neurology, vol.135, issue.11, pp.896-900, 2006. ,
DOI : 10.1111/j.1469-8749.2006.01964a.x
Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis, Biological Psychiatry, vol.64, issue.7, pp.577-582, 2008. ,
DOI : 10.1016/j.biopsych.2008.04.030
Is autism more common now than ten years ago?, The British Journal of Psychiatry, vol.158, issue.3, pp.403-409, 1991. ,
DOI : 10.1192/bjp.158.3.403
Advances in autism genetics: on the threshold of a new neurobiology, Nature Reviews Genetics, vol.9, issue.5, pp.341-355, 2008. ,
DOI : 10.1038/nrg2346
Genetic advances in autism: heterogeneity and convergence on shared pathways, Current Opinion in Genetics & Development, vol.19, issue.3, pp.271-278, 2009. ,
DOI : 10.1016/j.gde.2009.04.004
The Genetics of Autism, PEDIATRICS, vol.113, issue.5, pp.472-486, 2004. ,
DOI : 10.1542/peds.113.5.e472
Connecting Genes to Brain in the Autism Spectrum Disorders, Archives of Neurology, vol.67, issue.4, pp.395-399, 2010. ,
DOI : 10.1001/archneurol.2010.47
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting, Brain Research, vol.1380, pp.42-77, 2011. ,
DOI : 10.1016/j.brainres.2010.11.078
URL : https://hal.archives-ouvertes.fr/inserm-00549873
Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications, American Journal of Psychiatry, vol.168, issue.3, pp.302-316, 2011. ,
DOI : 10.1176/appi.ajp.2010.10060876
Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait, Epilepsy & Behavior, vol.22, issue.3, pp.421-427, 2011. ,
DOI : 10.1016/j.yebeh.2011.07.031
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy, The American Journal of Human Genetics, vol.68, issue.6, pp.1327-1332, 2001. ,
DOI : 10.1086/320609
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2, Nat Genet, vol.24, pp.343-345, 2000. ,
Sodium channels SCN1A, SCN2A and SCN3A in familial autism, Molecular Psychiatry, vol.8, issue.2, pp.186-194, 2003. ,
DOI : 10.1038/sj.mp.4001241
A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline, Journal of Neuroscience, vol.24, issue.11, pp.2690-2698, 2004. ,
DOI : 10.1523/JNEUROSCI.3089-03.2004
Sodium-channel defects in benign familial neonatal-infantile seizures, The Lancet, vol.360, issue.9336, pp.851-852, 2002. ,
DOI : 10.1016/S0140-6736(02)09968-3
Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures, Clinical Genetics, vol.24, issue.2, pp.2690-2698, 2010. ,
DOI : 10.1111/j.1399-0004.2010.01526.x
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy, Neuroscience Letters, vol.433, issue.1, pp.65-70, 2008. ,
DOI : 10.1016/j.neulet.2007.12.064
Febrile seizures and generalized epilepsy associated with a mutation in the Na + ?channel beta1 subunit gene SCN1B, Nat Genet, vol.19, pp.366-370, 1998. ,
mutation associated with global delay and persistent cerebellar dysfunction, Movement Disorders, vol.130, issue.5, pp.778-782, 2009. ,
DOI : 10.1002/mds.22467
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy, Brain, vol.122, issue.5, pp.122817-825, 1999. ,
DOI : 10.1093/brain/122.5.817
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation, Neurology, vol.63, issue.1, pp.57-65, 2004. ,
DOI : 10.1212/01.WNL.0000132979.08394.6D
A Potassium Channel Mutation in Neonatal Human Epilepsy, Science, vol.279, issue.5349, pp.403-406, 1998. ,
DOI : 10.1126/science.279.5349.403
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family, Nature Genetics, vol.49, issue.1, pp.53-55, 1998. ,
DOI : 10.1038/ng0198-53
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder, Nature Genetics, vol.331, issue.7, pp.733-738, 2005. ,
DOI : 10.1126/science.1088477
Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation, American Journal of Psychiatry, vol.163, issue.9, pp.1622-1629, 2006. ,
DOI : 10.1176/ajp.2006.163.9.1622
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel, The Lancet, vol.358, issue.9284, pp.801-807, 2001. ,
DOI : 10.1016/S0140-6736(01)05971-2
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy, Nature Genetics, vol.31, issue.2, pp.184-189, 2002. ,
DOI : 10.1038/ng885
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene, Nat Genet, vol.28, pp.46-48, 2001. ,
Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults, Neurology, vol.67, issue.12, pp.2224-2226, 2006. ,
DOI : 10.1212/01.wnl.0000249312.73155.7d
Increased Sensitivity of the Neuronal Nicotinic Receptor ??2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear, The American Journal of Human Genetics, vol.79, issue.2, pp.342-350, 2006. ,
DOI : 10.1086/506459
A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation, Archives of Neurology, vol.60, issue.11, pp.1625-1632, 2003. ,
DOI : 10.1001/archneur.60.11.1625
A missense mutation in the neuronal nicotinic acetylcholine receptor ??4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy, Nature Genetics, vol.35, issue.2, pp.201-203, 1995. ,
DOI : 10.1016/0887-8994(94)90184-8
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy, Nat Genet, vol.26, pp.275-276, 2000. ,
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
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family, The American Journal of Human Genetics, vol.74, issue.3, pp.552-557, 2004. ,
DOI : 10.1086/382137
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability, Journal of Medical Genetics, vol.48, issue.1, pp.48-54, 2011. ,
DOI : 10.1136/jmg.2010.079426
URL : https://hal.archives-ouvertes.fr/hal-00579028
Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry, Science, vol.321, issue.5886, pp.218-223, 2008. ,
DOI : 10.1126/science.1157657
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment, Nature Genetics, vol.141, issue.6, pp.776-781, 2008. ,
DOI : 10.1016/j.modgep.2006.03.001
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756413
Disruption of Neurexin 1 Associated with Autism Spectrum Disorder, The American Journal of Human Genetics, vol.82, issue.1, pp.199-207, 2008. ,
DOI : 10.1016/j.ajhg.2007.09.011
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia, Human Molecular Genetics, vol.17, issue.3, pp.458-465, 2008. ,
DOI : 10.1093/hmg/ddm323
Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters, American Journal of Medical Genetics Part A, vol.85, issue.11, pp.2826-2831, 2011. ,
DOI : 10.1002/ajmg.a.34255
Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2, New England Journal of Medicine, vol.354, issue.13, pp.1370-1377, 2006. ,
DOI : 10.1056/NEJMoa052773
gene dosage variation is associated with schizophrenia and epilepsy, Mol Psychiatry, vol.13, pp.2261-266, 2008. ,
DOI : 10.1038/sj.mp.4002049
A 12Mb deletion at 7q33???q35 associated with autism spectrum disorders and primary amenorrhea, European Journal of Medical Genetics, vol.51, issue.6, pp.631-638, 2008. ,
DOI : 10.1016/j.ejmg.2008.06.010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation, Nature Genetics, vol.19, issue.6, pp.489-491, 2010. ,
DOI : 10.1016/j.cell.2009.01.050
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nature Genetics, vol.28, issue.1, pp.25-27, 2007. ,
DOI : 10.1038/ng1933
URL : https://hal.archives-ouvertes.fr/inserm-00126175
in patients ascertained for schizophrenia, Proceedings of the National Academy of Sciences, vol.107, issue.17, pp.7863-7868, 2010. ,
DOI : 10.1073/pnas.0906232107
De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism, Biological Psychiatry, vol.69, issue.9, pp.898-901, 2011. ,
DOI : 10.1016/j.biopsych.2010.11.015
Mutations in the X-Linked Cyclin-Dependent Kinase???Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation, The American Journal of Human Genetics, vol.75, issue.6, pp.1149-1154, 2004. ,
DOI : 10.1086/426460
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation, The American Journal of Human Genetics, vol.75, issue.6, pp.1079-1093, 2004. ,
DOI : 10.1086/426462
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
Novel mutations in the Na+, K+-ATPase pump geneATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions, Annals of Neurology, vol.99, issue.3, pp.360-366, 2003. ,
DOI : 10.1002/ana.10674
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2ATP1A2 mutation, Annals of Neurology, vol.23, issue.2, pp.310-314, 2006. ,
DOI : 10.1002/ana.20760
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1, Brain, vol.131, issue.7, pp.1831-1844, 2008. ,
DOI : 10.1093/brain/awn113
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy, Nature Genetics, vol.140, issue.6, pp.782-788, 2008. ,
DOI : 10.1093/emboj/18.16.4372
Autisme et épilepsie: association fortuite ou physiopathologie commune? Ecole Doctorale Cerveau, 2011. ,
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes, New England Journal of Medicine, vol.359, issue.16, pp.1685-1699, 2008. ,
DOI : 10.1056/NEJMoa0805384
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities, Nature Genetics, vol.7, issue.12, pp.1466-1471, 2008. ,
DOI : 10.1002/ajmg.a.20185
Functional impact of global rare copy number variation in autism spectrum disorders, Nature, vol.81, issue.7304, pp.368-372, 2010. ,
DOI : 10.1038/nature09146
URL : https://hal.archives-ouvertes.fr/inserm-00521387
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy, BMC Medical Genetics, vol.155, issue.1, p.154, 2011. ,
DOI : 10.1002/ajmg.a.33917
Large recurrent microdeletions associated with schizophrenia, Nature, vol.1, issue.7210, pp.232-236, 2008. ,
DOI : 10.1038/nature07229
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687075
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia, Human Molecular Genetics, vol.18, issue.8, pp.1497-1503, 2009. ,
DOI : 10.1093/hmg/ddp043
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies, PLoS Genetics, vol.23, issue.5, p.1000962, 2010. ,
DOI : 10.1371/journal.pgen.1000962.t002
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia, Science, vol.320, issue.5875, pp.539-543, 2008. ,
DOI : 10.1126/science.1155174
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia, Molecular Psychiatry, vol.134, issue.2, 2011. ,
DOI : 10.1038/mp.2011.154
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication, Molecular Cytogenetics, vol.1, issue.1, p.8, 2008. ,
DOI : 10.1186/1755-8166-1-8
A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions, Clinical Dysmorphology, vol.15, issue.3, pp.145-148, 2006. ,
DOI : 10.1097/01.mcd.0000198934.55071.ee
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review, American Journal of Medical Genetics Part A, vol.77, issue.10, pp.2459-2467, 2010. ,
DOI : 10.1002/ajmg.a.33573
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome, The American Journal of Human Genetics, vol.77, issue.1, pp.3-29154, 2005. ,
DOI : 10.1086/431653
Microdeletions of 3q29 Confer High Risk for Schizophrenia, The American Journal of Human Genetics, vol.87, issue.2, pp.229-236, 2010. ,
DOI : 10.1016/j.ajhg.2010.07.013
New Copy Number Variations in Schizophrenia, PLoS ONE, vol.10, issue.10, p.13422, 2010. ,
DOI : 10.1371/journal.pone.0013422.s001
Overlap With the Autism Spectrum in Young Children With Williams Syndrome, Journal of Developmental & Behavioral Pediatrics, vol.30, issue.4, pp.289-299, 2009. ,
DOI : 10.1097/DBP.0b013e3181ad1f9a
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism, Neuron, vol.70, issue.5, pp.863-885, 2011. ,
DOI : 10.1016/j.neuron.2011.05.002
Autism, language delay and mental retardation in a patient with 7q11 duplication, Journal of Medical Genetics, vol.44, issue.7, pp.452-458, 2007. ,
DOI : 10.1136/jmg.2006.047092
URL : https://hal.archives-ouvertes.fr/inserm-00166907
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region, Genetics in Medicine, vol.7, issue.7, pp.427-441, 2007. ,
DOI : 10.1097/GIM.0b013e3180986192
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams???Beuren syndrome regions, European Journal of Medical Genetics, vol.50, issue.1, pp.33-42, 2007. ,
DOI : 10.1016/j.ejmg.2006.10.002
Phenomic determinants of genomic variation in autism spectrum disorders, Journal of Medical Genetics, vol.46, issue.10, pp.680-688, 2009. ,
DOI : 10.1136/jmg.2009.066795
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome, European Journal of Medical Genetics, vol.52, issue.2-3, pp.94-100, 2009. ,
DOI : 10.1016/j.ejmg.2009.02.006
Social interaction behaviors discriminate young children with autism and Williams syndrome. JAm Acad Child Adolesc Psychiatry, pp.323-331, 2007. ,
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease, Genome Research, vol.19, issue.9, pp.1579-1585, 2009. ,
DOI : 10.1101/gr.094987.109
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders, Biological Psychiatry, vol.66, issue.4, pp.349-359, 2009. ,
DOI : 10.1016/j.biopsych.2009.01.025
URL : https://hal.archives-ouvertes.fr/inserm-00369261
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies, Brain, vol.133, issue.1, pp.23-32, 2010. ,
DOI : 10.1093/brain/awp262
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy, Nature Genetics, vol.51, issue.2, pp.160-162, 2009. ,
DOI : 10.1111/j.1528-1167.2005.00311.x
H e l b i gI ,M e f f o r dH C ,B a y l yM A ,B e l l o w sS Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance, Hum Mol Genet, vol.18, pp.3626-3631, 2009. ,
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders, Journal of Medical Genetics, vol.46, issue.6, pp.382-388, 2009. ,
DOI : 10.1136/jmg.2008.064378
Delineation of 15q13.3 microdeletions, Clinical Genetics, vol.41, issue.2, pp.149-161, 2010. ,
DOI : 10.1111/j.1399-0004.2010.01374.x
URL : https://hal.archives-ouvertes.fr/inserm-00466147
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders, Journal of Medical Genetics, vol.46, issue.4, pp.242-248, 2009. ,
DOI : 10.1136/jmg.2008.059907
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome, Journal of Medical Genetics, vol.46, issue.8, pp.511-523, 2009. ,
DOI : 10.1136/jmg.2008.063412
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures, Nature Genetics, vol.143, issue.3, pp.322-328, 2008. ,
DOI : 10.1006/meth.2001.1262
Structural Variation of Chromosomes in Autism Spectrum Disorder, The American Journal of Human Genetics, vol.82, issue.2, pp.477-488, 2008. ,
DOI : 10.1016/j.ajhg.2007.12.009
Recurrent 16p11.2 microdeletions in autism, Human Molecular Genetics, vol.17, issue.4, pp.628-638, 2008. ,
DOI : 10.1093/hmg/ddm376
Microduplications of 16p11.2 are associated with schizophrenia, Nature Genetics, vol.140, issue.11, pp.1223-1227, 2009. ,
DOI : 10.1038/ng.236
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder, Journal of Medical Genetics, vol.47, issue.3, pp.195-203, 2010. ,
DOI : 10.1136/jmg.2009.069369
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders, Genetics in Medicine, vol.13, issue.11, pp.694-702, 2010. ,
DOI : 10.1097/GIM.0b013e3181f0c5f3
Association between Microdeletion and Microduplication at 16p11.2 and Autism, New England Journal of Medicine, vol.358, issue.7, pp.667-675, 2008. ,
DOI : 10.1056/NEJMoa075974
URL : http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.205.9518
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size, Journal of Medical Genetics, vol.47, issue.5 ,
DOI : 10.1136/jmg.2009.073015
Strong Association of De Novo Copy Number Mutations with Autism, Science, vol.316, issue.5823, pp.445-449, 2007. ,
DOI : 10.1126/science.1138659
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals, European Journal of Medical Genetics, vol.52, issue.2-3, pp.77-87, 2009. ,
DOI : 10.1016/j.ejmg.2009.03.006
Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome, Journal of Developmental & Behavioral Pediatrics, vol.31, issue.8, pp.649-657, 2010. ,
DOI : 10.1097/DBP.0b013e3181ea50ed
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes, The American Journal of Human Genetics, vol.86, issue.5, pp.707-718, 2010. ,
DOI : 10.1016/j.ajhg.2010.03.018
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation, Human Mutation, vol.31, issue.Spec No 1, pp.674-682, 2007. ,
DOI : 10.1002/humu.20546
Copy number variations of chromosome 16p13.1 region associated with schizophrenia, Molecular Psychiatry, vol.12, issue.1, pp.17-25, 2011. ,
DOI : 10.1016/j.ajhg.2008.09.011
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant, Journal of Medical Genetics, vol.46, issue.4 ,
DOI : 10.1136/jmg.2007.055202
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12, European Journal of Human Genetics, vol.18, issue.3, pp.278-284, 2010. ,
DOI : 10.1038/374425a0
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion, Nephrology Dialysis Transplantation, vol.25, issue.10, pp.3430-3433, 2010. ,
DOI : 10.1093/ndt/gfq380
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia, The American Journal of Human Genetics, vol.87, issue.5, pp.618-630, 2010. ,
DOI : 10.1016/j.ajhg.2010.10.004
Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome, Journal of Autism and Developmental Disorders, vol.63, issue.Suppl. 12, pp.461-470, 2005. ,
DOI : 10.1007/s10803-005-5036-9
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome, Research in Developmental Disabilities, vol.30, issue.4, pp.763-773, 2009. ,
DOI : 10.1016/j.ridd.2008.10.007
Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model, Annals of Neurology, vol.16, issue.2, pp.251-256, 2003. ,
DOI : 10.1002/ana.10648
The Epidemiology of Autism Spectrum Disorders, Annual Review of Public Health, vol.28, issue.1, pp.235-258, 2007. ,
DOI : 10.1146/annurev.publhealth.28.021406.144007
Pre-, peri- and neonatal risk factors for autism, Acta Obstetricia et Gynecologica Scandinavica, vol.41, issue.3, pp.287-300, 2012. ,
DOI : 10.1111/j.1600-0412.2011.01325.x
Autism risk assessment in siblings of affected children using sex-specific genetic scores, Molecular Autism, vol.2, issue.1, p.17, 2011. ,
DOI : 10.1086/429864
URL : https://hal.archives-ouvertes.fr/inserm-00641296
Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk, Molecular Autism, vol.1, issue.1, 2010. ,
DOI : 10.1186/2040-2392-1-4
Brief Report: Relationship Between Non-verbal IQ and Gender in Autism, Journal of Autism and Developmental Disorders, vol.5, issue.2, pp.188-193, 2009. ,
DOI : 10.1007/s10803-008-0612-4
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 Autism Genetic Resource Exchange: A Resource for the Study of Autism and Related Neuropsychiatric Conditions, The American Journal of Human Genetics, vol.69, issue.2, pp.463-466, 2001. ,
DOI : 10.1086/321292
Common genetic variants on 5p14.1 associate with autism spectrum disorders, Nature, vol.17, issue.7246, pp.528-533, 2009. ,
DOI : 10.1038/nature07999
A genome-wide linkage and association scan reveals novel loci for autism, Nature, vol.25, issue.7265, pp.802-808, 2009. ,
DOI : 10.1038/nature08490
Section 2: The Coloured Progressive Matrices In Manual for Raven's Progressive Matrices and Vocabulary Scales, 1998. ,
A Neural Basis for General Intelligence, Science, vol.289, issue.5478, pp.457-460, 2000. ,
DOI : 10.1126/science.289.5478.457
Vineland Adaptative Behavior Scales. Circle Pines, MN: American Guidance Service, 1984. ,
Vineland Adaptative Behavior Scales MN: American Guidance Service, 2005. ,
Epilepsy in Simplex Autism Pedigrees is Much Lower Than the Rate in Multiplex Autism Pedigrees, Biological Psychiatry, vol.74, issue.3, pp.3-4, 2013. ,
DOI : 10.1016/j.biopsych.2013.01.037
Epilepsy in children, The Lancet, vol.367, issue.9509, pp.499-524, 2006. ,
DOI : 10.1016/S0140-6736(06)68182-8
Epilepsy in autism, The Lancet Neurology, vol.1, issue.6, pp.352-358, 2002. ,
DOI : 10.1016/S1474-4422(02)00160-6
Birth order effects on nonverbal IQ scores in autism multiplex families, Journal of Autism and Developmental Disorders, vol.31, issue.5, pp.449-460, 2001. ,
DOI : 10.1023/A:1012217807469
Autism Spectrum Disorders In GeneReviews (Internet) Edited by Pagon RA, 1993. ,
Disruption in the Inhibitory Architecture of the Cell Minicolumn: Implications for Autisim, The Neuroscientist, vol.9, issue.6, pp.496-507, 2003. ,
DOI : 10.1177/1073858403253552
A Topographic Study of Minicolumnar Core Width by Lamina Comparison between Autistic Subjects and Controls: Possible Minicolumnar Disruption due to an Anatomical Element In-Common to Multiple Laminae, Brain Pathology, vol.131, issue.2, pp.451-458, 2010. ,
DOI : 10.1111/j.1750-3639.2009.00319.x
Outcome of multiple subpial transections for autistic epileptiform regression, Pediatric Neurology, vol.21, issue.1, pp.464-470, 1999. ,
DOI : 10.1016/S0887-8994(99)00029-6
Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?, Brain and Development, vol.32, issue.9, pp.731-738, 2010. ,
DOI : 10.1016/j.braindev.2010.04.010
Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children, Epilepsia, vol.88, issue.52 1, pp.13-20 ,
DOI : 10.1111/j.1528-1167.2010.02906.x
Autism Spectrum Disorders in Children with Seizures in the First Year of Life-A Population-Based Study, Epilepsia, vol.8, issue.9, pp.1724-1730, 2007. ,
DOI : 10.1111/j.1528-1167.2007.01150.x
Risk of autism spectrum disorders after infantile spasms: A population-based study nested in a cohort with seizures in the first year of life, Epilepsia, vol.8, issue.11, pp.1865-1870, 2008. ,
DOI : 10.1111/j.1528-1167.2008.01688.x
Autism Spectrum Disorders in Children With a History of Infantile Spasms: A Population-Based Study, Journal of Child Neurology, vol.27, issue.2, pp.1102-1107, 2007. ,
DOI : 10.1177/0883073807306251
The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc, Cell, vol.140, issue.5, pp.704-716, 2010. ,
DOI : 10.1016/j.cell.2010.01.026
Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function, Neuron, vol.60, issue.2, pp.201-214, 2008. ,
DOI : 10.1016/j.neuron.2008.10.004
The Role of MeCP2 in Brain Development and Neurodevelopmental Disorders, Current Psychiatry Reports, vol.72, issue.2, pp.127-134, 2010. ,
DOI : 10.1007/s11920-010-0097-7
Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers, Annals of Neurology, vol.11, issue.1, pp.67-78, 2001. ,
DOI : 10.1002/1531-8249(200101)49:1<67::AID-ANA10>3.0.CO;2-L
Association testing of copy number variants in schizophrenia and autism spectrum disorders, Journal of Neurodevelopmental Disorders, vol.4, issue.1, p.15, 2012. ,
DOI : 10.1186/1866-1955-4-15
Genetic architectures of psychiatric disorders: the emerging picture and its implications, Nature Reviews Genetics, vol.8, issue.8, pp.537-551, 2012. ,
DOI : 10.1038/mp.2009.49
The Level and Nature of Autistic Intelligence, Psychological Science, vol.2, issue.8, pp.657-662, 2007. ,
DOI : 10.1007/s10803-005-0040-7
The Role of Adaptive Behavior in Autism Spectrum Disorders: Implications for Functional Outcome, Journal of Autism and Developmental Disorders, vol.45, issue.4, pp.1007-1018, 2011. ,
DOI : 10.1007/s10803-010-1126-4