M. B. Ramocki and H. Y. Zoghbi, Failure of neuronal homeostasis results in common neuropsychiatric phenotypes, Nature, vol.455, pp.912-918, 2008.

R. Toro, Key role for gene dosage and synaptic homeostasis in autism spectrum disorders, Trends Genet, vol.26, pp.363-372, 2010.
URL : https://hal.archives-ouvertes.fr/pasteur-01967134

H. J. Kang, Spatio-temporal transcriptome of the human brain, Nature, vol.478, pp.483-489, 2011.

J. Guy, J. Gan, J. Selfridge, S. Cobb, and A. Bird, Reversal of neurological defects in a mouse model of Rett syndrome, Science, vol.315, pp.1143-1147, 2007.

J. N. Constantino, Developmental course of autistic social impairment in males, Dev. Psychopathol, vol.21, pp.127-138, 2009.

C. Fountain, A. S. Winter, and P. S. Bearman, Six developmental trajectories characterize children with autism, Pediatrics, vol.129, pp.1112-1120, 2012.

G. Dawson, Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model, Pediatrics, vol.125, pp.17-23, 2010.

C. Gillberg, The ESSENCE in child psychiatry: Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations, Res. Dev. Disabil, vol.31, pp.1543-1551, 2010.

T. K. Hensch, Critical period plasticity in local cortical circuits, Nat. Rev. Neurosci, vol.6, pp.877-888, 2005.

P. K. Kuhl, Brain mechanisms in early language acquisition, Neuron, vol.67, pp.713-727, 2010.

T. K. Hensch, Critical period regulation, Annu. Rev. Neurosci, vol.27, pp.549-579, 2004.

Y. J. Sun, Fine-tuning of pre-balanced excitation and inhibition during auditory cortical development, Nature, vol.465, pp.927-931, 2010.

J. J. Leblanc and M. Fagiolini, Autism: a "critical period" disorder?, Neural Plast, p.921680, 2011.

B. S. Abrahams and D. H. Geschwind, Advances in autism genetics: on the threshold of a new neurobiology, Nat. Rev. Genet, vol.9, pp.341-355, 2008.

B. Devlin and S. W. Scherer, Genetic architecture in autism spectrum disorder, Curr. Opin. Genet. Dev, vol.22, pp.229-237, 2012.

B. D. Auerbach, E. K. Osterweil, and M. F. Bear, Mutations causing syndromic autism define an axis of synaptic pathophysiology, Nature, vol.480, pp.63-68, 2011.

M. J. Schmeisser, Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2, Nature, vol.486, pp.256-260, 2012.
URL : https://hal.archives-ouvertes.fr/pasteur-01470252

J. Peça, Shank3 mutant mice display autistic-like behaviours and striatal dysfunction, Nature, vol.472, pp.437-442, 2011.

K. Tabuchi, A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice, Science, vol.318, pp.71-76, 2007.

D. H. Ebert and M. E. Greenberg, Activity-dependent neuronal signalling and autism spectrum disorder, Nature, vol.493, pp.327-337, 2013.

J. C. Darnell, FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism, Cell, vol.146, pp.247-261, 2011.

S. M. Sunkin, Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system, Nucleic Acids Res, vol.41, pp.996-1008, 2012.

T. M. Boeckers, Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density, J. Neurosci, vol.19, pp.6506-6518, 1999.

J. Y. Song, K. Ichtchenko, T. C. Sudhof, and N. Brose, Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses, Proc. Natl. Acad. Sci. USA, vol.96, pp.1100-1105, 1999.

M. A. Howard, G. M. Elias, L. A. Elias, W. Swat, and R. A. Nicoll, The role of SAP97 in synaptic glutamate receptor dynamics, Proc. Natl. Acad. Sci. USA, vol.107, pp.3805-3810, 2010.

C. M. Durand, SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism, Mol. Psychiatry, vol.17, pp.71-84, 2012.
URL : https://hal.archives-ouvertes.fr/hal-00644264

J. P. Clement, Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses, Cell, vol.151, pp.709-723, 2012.

R. J. Landa, A. L. Gross, E. A. Stuart, and A. Faherty, Developmental trajectories in children with and without autism spectrum disorders: the first 3 years, Child Dev, vol.84, pp.429-442, 2013.

E. Redcay and E. Courchesne, When is the brain enlarged in autism? A metaanalysis of all brain size reports, Biol. Psychiatry, vol.58, pp.1-9, 2005.

J. J. Wolff, Differences in white matter fiber tract development present from 6 to 24 months in infants with autism, Am. J. Psychiatry, vol.169, pp.589-600, 2012.

A. L. Tierney, L. Gabard-durnam, V. Vogel-farley, H. Tager-flusberg, and C. A. Nelson, Developmental trajectories of resting EEG power: an endophenotype of autism spectrum disorder, PLoS ONE, vol.7, p.39127, 2012.

J. P. Mccleery, N. Akshoomoff, K. R. Dobkins, and L. J. Carver, Atypical face versus object processing and hemispheric asymmetries in 10-month-old infants at risk for autism, Biol. Psychiatry, vol.66, pp.950-957, 2009.

L. Restivo, Enriched environment promotes behavioral and morphological recovery in a mouse model for the fragile X syndrome, Proc. Natl. Acad. Sci. USA, vol.102, pp.11557-11562, 2005.

D. Tropea, Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice, Proc. Natl. Acad. Sci. USA, vol.106, pp.2029-2034, 2009.

E. Ey, C. S. Leblond, and T. Bourgeron, Behavioral profiles of mouse models for autism spectrum disorders, Autism Res, vol.4, pp.5-16, 2011.
URL : https://hal.archives-ouvertes.fr/pasteur-01470286

J. L. Silverman, C. F. Oliver, M. N. Karras, P. T. Gastrell, and J. N. Crawley, AMPAKINE enhancement of social interaction in the BTBR mouse model of autism, Neuropharmacology, vol.64, pp.268-282, 2013.

A. M. Peier, Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features, Hum. Mol. Genet, vol.9, pp.1145-1159, 2000.

R. Paylor, L. A. Yuva-paylor, D. L. Nelson, and C. M. Spencer, Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human FMR1 transgene, Behav. Neurosci, vol.122, pp.1371-1377, 2008.

C. M. Spencer, D. F. Graham, L. A. Yuva-paylor, D. L. Nelson, and R. Paylor, Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene, Behav. Neurosci, vol.122, pp.710-715, 2008.

J. T. Glessner, Autism genome-wide copy number variation reveals ubiquitin and neuronal genes, Nature, vol.459, pp.569-573, 2009.

R. Dahlhaus and A. El-husseini, Altered Neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome, Behav. Brain Res, vol.208, pp.96-105, 2010.

G. Dölen, Correction of fragile X syndrome in mice, Neuron, vol.56, pp.955-962, 2007.

C. J. Westmark, Reversal of fragile X phenotypes by manipulation of A?PP/ A? levels in Fmr1KO mice, PLoS ONE, vol.6, p.26549, 2011.

S. M. Goebel-goody, Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model, Genes Brain Behav, vol.11, pp.586-600, 2012.

Q. Chang, G. Khare, V. Dani, S. Nelson, and R. Jaenisch, The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression, Neuron, vol.49, pp.341-348, 2006.

M. Lang, Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2deficient mice, Hum. Mol. Genet, vol.22, pp.358-371, 2013.

N. C. Derecki, Wild-type microglia arrest pathology in a mouse model of Rett syndrome, Nature, vol.484, pp.105-109, 2012.

T. V. Bilousova, Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model, J. Med. Genet, vol.46, pp.94-102, 2009.

S. E. Rotschafer, M. S. Trujillo, L. E. Dansie, I. M. Ethell, and K. A. Razak, Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of fragile X syndrome, Brain Res, vol.1439, pp.7-14, 2012.

S. Veeraragavan, Genetic reduction of muscarinic M-4 receptor modulates analgesic response and acoustic startle response in a mouse model of fragile X syndrome (FXS), Behav. Brain Res, vol.228, pp.1-8, 2012.

H. Won, Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function, Nature, vol.486, pp.261-265, 2012.

J. Blundell, Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior, J. Neurosci, vol.30, pp.2115-2129, 2010.

R. Deogracias, Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome, Proc. Natl. Acad. Sci. USA, vol.109, pp.14230-14235, 2012.

O. Peñagarikano, Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits, Cell, vol.147, pp.235-246, 2011.

J. T. Mccracken, Risperidone in children with autism and serious behavioral problems, N. Engl. J. Med, vol.347, pp.314-321, 2002.

R. J. Kelleher and M. F. Bear, The autistic neuron: troubled translation?, Cell, vol.135, pp.401-406, 2008.

D. Ehninger and A. J. Silva, Rapamycin for treating tuberous sclerosis and autism spectrum disorders, Trends Mol. Med, vol.17, pp.78-87, 2011.

M. G. Butler, Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations, J. Med. Genet, vol.42, pp.318-321, 2005.

M. Neves-pereira, Deregulation of EIF4E: a novel mechanism for autism, J. Med. Genet, vol.46, pp.759-765, 2009.

S. Conti, Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy, J. Child Neurol, vol.27, pp.392-397, 2012.

D. Ehninger, Reversal of learning deficits in a Tsc2 +/? mouse model of tuberous sclerosis, Nat. Med, vol.14, pp.843-848, 2008.

P. T. Tsai, Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice, Nature, vol.488, pp.647-651, 2012.

R. P. Carson, D. L. Van-nielen, P. A. Winzenburger, and K. C. Ess, Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin, Neurobiol. Dis, vol.45, pp.369-380, 2012.

J. Zhou, Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice, J. Neurosci, vol.29, pp.1773-1783, 2009.

D. N. Franz, Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial, Lancet, vol.381, pp.125-132, 2013.

J. J. Bissler, Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis, N. Engl. J. Med, vol.358, pp.140-151, 2008.

E. Castrén, Y. Elgersma, L. Maffei, and R. Hagerman, Treatment of neurodevelopmental disorders in adulthood, J. Neurosci, vol.32, pp.14074-14079, 2012.

A. Michalon, Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice, Neuron, vol.74, pp.49-56, 2012.

S. Jacquemont, Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056, Sci. Transl. Med, vol.3, pp.64-65, 2011.
URL : https://hal.archives-ouvertes.fr/hal-00655289

J. L. Silverman, S. S. Tolu, C. L. Barkan, and J. N. Crawley, Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP, Neuropsychopharmacology, vol.35, pp.976-989, 2010.

S. J. Baudouin, Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism, Science, vol.338, pp.128-132, 2012.

E. K. Osterweil, Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome, Neuron, vol.77, pp.243-250, 2013.

S. E. Rotschafer, M. S. Trujillo, L. E. Dansie, I. M. Ethell, and K. A. Razak, Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of fragile X syndrome, Brain Res, vol.1439, pp.7-14, 2012.

C. Paribello, Open-label add-on treatment trial of minocycline in fragile X syndrome, BMC Neurol, vol.10, p.91, 2010.

A. Utari, Side effects of minocycline treatment in patients with fragile X syndrome and exploration of outcome measures, Am. J. Intellect. Dev. Disabil, vol.115, pp.433-443, 2010.

B. J. O'roak, Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations, Nat. Genet, vol.43, pp.585-589, 2011.

S. Han, Autistic-like behaviour in Scn1a +/? mice and rescue by enhanced GABA-mediated neurotransmission, Nature, vol.489, pp.385-390, 2012.

C. Henderson, Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABA B receptors with arbaclofen, Sci. Transl. Med, vol.4, pp.152-128, 2012.

E. M. Berry-kravis, Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial, Sci. Transl. Med, vol.4, pp.152-127, 2012.

E. Lemonnier, A randomised controlled trial of bumetanide in the treatment of autism in children, Transl. Psychiatry, vol.2, p.202, 2012.
URL : https://hal.archives-ouvertes.fr/hal-00952877

M. Kondo, Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome-Mecp2 gene dosage effects and BDNF expression, Eur. J. Neurosci, vol.27, pp.3342-3350, 2008.

M. Yang, K. Perry, M. D. Weber, A. M. Katz, and J. N. Crawley, Social peers rescue autismrelevant sociability deficits in adolescent mice, Autism Res, vol.4, pp.17-27, 2011.

M. Lacaria, C. Spencer, W. Gu, R. Paylor, and J. R. Lupski, Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits, Hum. Mol. Genet, vol.21, pp.3083-3096, 2012.

G. Dawson, Early behavioral intervention is associated with normalized brain activity in young children with autism, J. Am. Acad. Child Adolesc. Psychiatry, vol.51, pp.1150-1159, 2012.

E. Ey, Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4, Genes Brain Behav, vol.11, pp.928-941, 2012.
URL : https://hal.archives-ouvertes.fr/pasteur-01470265

M. Bernardet and W. E. Crusio, Fmr1 KO mice as a possible model of autistic features, Scientific World Journal, vol.6, pp.1164-1176, 2006.
URL : https://hal.archives-ouvertes.fr/hal-00110405

M. R. Pitcher, Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function, Hum. Mol. Genet, 2013.

M. L. Mcpheeters, A systematic review of medical treatments for children with autism spectrum disorders, Pediatrics, vol.127, pp.1312-1321, 2011.

W. Spooren, L. Lindemann, A. Ghosh, and L. Santarelli, Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders, Trends Pharmacol. Sci, vol.33, pp.669-684, 2012.

E. Tambuyzer, Rare diseases, orphan drugs and their regulation: questions and misconceptions, Nat. Rev. Drug Discov, vol.9, pp.921-929, 2010.

B. H. King, Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism, Arch. Gen. Psychiatry, vol.66, pp.583-590, 2009.

Y. Kamio, N. Inada, and T. Koyama, A nationwide survey on quality of life and associated factors of adults with high-functioning autism spectrum disorders, Autism, vol.17, pp.15-26, 2013.

S. Girirajan, Phenotypic heterogeneity of genomic disorders and rare copynumber variants, N. Engl. J. Med, vol.367, pp.1321-1331, 2012.

C. S. Leblond, Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders, PLoS Genet, vol.8, p.1002521, 2012.
URL : https://hal.archives-ouvertes.fr/inserm-00834560

K. Phelan and H. E. Mcdermid, The 22q13.3 deletion syndrome (Phelan-McDermid syndrome), Mol. Syndromol, vol.2, pp.186-201, 2012.

W. M. Verhoeven, J. I. Egger, M. H. Willemsen, G. J. De-leijer, and T. Kleefstra, Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?, Neuropsychiatr. Dis. Treat, vol.8, pp.175-179, 2012.

J. Gauthier, De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia, Proc. Natl. Acad. Sci. USA, vol.107, pp.7863-7868, 2010.

C. Simons-vip, Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders, Neuron, vol.73, pp.1063-1067, 2012.

A. K. Percy, Rett syndrome diagnostic criteria: lessons from the Natural History Study, Ann. Neurol, vol.68, pp.951-955, 2010.

T. W. Yu, Using whole-exome sequencing to identify inherited causes of autism, Neuron, vol.77, pp.259-273, 2013.

H. S. Huang, Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons, Nature, vol.481, pp.185-189, 2012.

R. Sando and . Iii, HDAC4 governs a transcriptional program essential for synaptic plasticity and memory, Cell, vol.151, pp.821-834, 2012.

Q. Li, J. A. Lee, and D. L. Black, Neuronal regulation of alternative pre-mRNA splicing, Nat. Rev. Neurosci, vol.8, pp.819-831, 2007.

M. Doyle and M. A. Kiebler, Mechanisms of dendritic mRNA transport and its role in synaptic tagging, EMBO J, vol.30, pp.3540-3552, 2011.

S. A. Swanger and G. J. Bassell, Dendritic protein synthesis in the normal and diseased brain, Neuroscience, vol.232, pp.106-127, 2012.

C. L. Waites, Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation, EMBO J, vol.32, pp.954-969, 2013.

B. J. O'roak, Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders, Science, vol.338, pp.1619-1622, 2012.

G. Novarino, Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy, Science, vol.338, pp.394-397, 2012.

M. Ascano, FMRP targets distinct mRNA sequence elements to regulate protein expression, Nature, vol.492, pp.382-386, 2012.

C. G. Gkogkas, Autism-related deficits via dysregulated eIF4E-dependent translational control, Nature, vol.493, pp.371-377, 2013.

S. Jamain, Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism, Nat. Genet, vol.34, pp.27-29, 2003.
URL : https://hal.archives-ouvertes.fr/inserm-00124744

B. R. Bill and D. H. Geschwind, Genetic advances in autism: heterogeneity and convergence on shared pathways, Curr. Opin. Genet. Dev, vol.19, pp.271-278, 2009.

C. M. Spencer, D. F. Graham, L. A. Yuva-paylor, D. L. Nelson, and R. Paylor, Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene, Behav. Neurosci, vol.122, pp.710-715, 2008.

Q. J. Yan, M. Rammal, M. Tranfaglia, and R. P. Bauchwitz, Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP, Neuropharmacology, vol.49, pp.1053-1066, 2005.

E. Giacometti, S. Luikenhuis, C. Beard, and R. Jaenisch, Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2, Proc. Natl. Acad. Sci. USA, vol.104, pp.1931-1936, 2007.

M. Ogier, Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome, J. Neurosci, vol.27, pp.10912-10917, 2007.

J. C. Roux and L. Villard, Pharmacological treatment of Rett syndrome improve breathing and survival in a mouse model, Med. Sci, vol.23, pp.805-807, 2007.

S. Zanella, Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model, Respir. Physiol. Neurobiol, vol.160, pp.116-121, 2008.