L. E. Vissers, C. Gilissen, and J. A. Veltman, Genetic studies in intellectual disability and related disorders, Nat Rev Genet, vol.17, pp.9-18, 2016.

J. A. Chen, O. Peñagarikano, T. G. Belgard, V. Swarup, and D. H. Geschwind, The emerging picture of autism spectrum disorder: genetics and pathology, Annu Rev Pathol, vol.10, pp.111-144, 2015.

T. Bourgeron, From the genetic architecture to synaptic plasticity in autism spectrum disorder, Nat Rev Neurosci, vol.16, pp.551-563, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01576592

M. Sahin and M. Sur, Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders, Science, vol.350, p.6263, 2015.

H. Van-bokhoven, Genetic and epigenetic networks in intellectual disabilities, Annu Rev Genet, vol.45, pp.81-104, 2011.

N. N. Parikshak, M. J. Gandal, and D. H. Geschwind, Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders, Nat Rev Genet, vol.16, pp.441-458, 2015.

L. Volk, S. L. Chiu, K. Sharma, and R. L. Huganir, Glutamate synapses in human cognitive disorders, Annu Rev Neurosci, vol.38, pp.127-149, 2015.

K. Kochinke, C. Zweier, B. Nijhof, M. Fenckova, P. Cizek et al., Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules, Am J Hum Genet, vol.98, pp.149-164, 2016.

A. Noor, A. Whibley, C. R. Marshall, P. J. Gianakopoulos, A. Piton et al., Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability, Sci Transl Med, vol.2, pp.49-68, 2010.

A. Chaudhry, A. Noor, B. Degagne, K. Baker, L. A. Bok et al., Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder, Clin Genet, vol.88, pp.224-233, 2015.

I. Filges, B. Röthlisberger, A. Blattner, N. Boesch, P. Demougin et al., Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism, Clin Genet, vol.79, pp.79-85, 2011.

B. Torrico, N. Fernàndez-castillo, A. Hervás, M. Milà, M. Salgado et al., Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability, Eur J Hum Genet, vol.23, pp.1694-1701, 2015.

M. F. Wells, R. D. Wimmer, L. I. Schmitt, G. Feng, and M. M. Halassa, Thalamic reticular impairment underlies attention deficit in Ptchd1 Y/ ? mice, Nature, vol.532, pp.58-63, 2016.

M. Zíková, J. Koní?ová, K. Ditrychová, A. Corlett, M. Kolá? et al., DISP3 promotes proliferation and delays differentiation of neural progenitor cells, FEBS Lett, vol.588, pp.4071-4077, 2014.

J. Fan, H. Akabane, X. Zheng, X. Zhou, L. Zhang et al., Male germ cell-specific expression of a novel Patched-domain containing gene Ptchd3, Biochem Biophys Res Commun, vol.363, pp.757-761, 2007.

J. H. Chung, A. R. Larsen, E. Chen, and F. Bunz, A PTCH1 homolog transcriptionally activated by p53 suppresses Hedgehog signaling, J Biol Chem, vol.289, pp.33020-33031, 2014.

P. J. Yao, R. S. Petralia, C. Ott, Y. X. Wang, J. Lippincott-schwartz et al., Dendrosomatic Sonic Hedgehog Signaling in hippocampal neurons regulates axon elongation, J Neurosci, vol.35, pp.16126-16141, 2015.

R. S. Petralia, Y. X. Wang, M. P. Mattson, and P. J. Yao, Sonic hedgehog distribution within mature hippocampal neurons, Commun Integr Biol, vol.4, pp.775-777, 2011.

P. T. Yam, S. D. Langlois, S. Morin, and F. Charron, sonic hedgehog guides axons through a noncanonical, Src-family-kinase-dependent signaling pathway, Neuron, vol.62, pp.349-362, 2009.

W. T. Farmer, T. Abrahamsson, S. Chierzi, C. Lui, C. Zaelzer et al., Neurons diversify astrocytes in the adult brain through sonic hedgehog signaling, Science, vol.351, pp.849-854, 2016.

T. E. Bakken, J. A. Miller, R. Luo, A. Bernard, J. L. Bennett et al., Spatiotemporal dynamics of the postnatal developing primate brain transcriptome, Hum Mol Genet, vol.24, pp.4327-4339, 2015.

M. C. Birling, A. Dierich, S. Jacquot, Y. Hérault, and G. Pavlovic, Highly-efficient, fluorescent, locus directed cre and FlpO deleter mice on a pure C57BL/6N genetic background, Genesis, vol.50, pp.482-489, 2012.

N. A. Karp, T. F. Meehan, H. Morgan, J. C. Mason, A. Blake et al., Applying the ARRIVE guidelines to an in vivo database, PLoS Biol, vol.13, p.1002151, 2015.

Z. Iqbal, M. H. Willemsen, M. A. Papon, L. Musante, M. Benevento et al., Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems, Am J Hum Genet, vol.96, pp.386-396, 2015.

H. Hu, S. A. Haas, J. Chelly, H. Van-esch, M. Raynaud et al., X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes, Mol Psychiatry, vol.21, pp.133-148, 2016.

R. D. Emes and S. G. Grant, Evolution of synapse complexity and diversity, Annu Rev Neurosci, vol.35, pp.111-131, 2012.

A. J. Koleske, Molecular mechanisms of dendrite stability, Nat Rev Neurosci, vol.14, pp.536-550, 2013.

N. Sans, K. Prybylowski, R. S. Petralia, K. Chang, Y. X. Wang et al., NMDA receptor trafficking through an interaction between PDZ proteins and the exocyst complex, Nat Cell Biol, vol.5, pp.520-530, 2003.

T. Dresbach, A. Neeb, G. Meyer, E. D. Gundelfinger, and N. Brose, Synaptic targeting of neuroligin is independent of neurexin and SAP90/PSD95 binding, Mol Cell Neurosci, vol.27, pp.227-235, 2004.

T. Bresler, M. Shapira, T. Boeckers, T. Dresbach, M. Futter et al., Postsynaptic density assembly is fundamentally different from presynaptic active zone assembly, J Neurosci, vol.24, pp.1507-1520, 2004.

A. M. Holtz, K. A. Peterson, Y. Nishi, S. Morin, J. Y. Song et al., Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning, Development, vol.140, pp.3423-3434, 2013.

J. J. Canales and A. M. Graybiel, A measure of striatal function predicts motor stereotypy, Nat Neurosci, vol.3, pp.377-383, 2000.

M. Biscaldi, N. Bednorz, K. Weissbrodt, C. W. Saville, B. Feige et al., Cognitive endophenotypes of attention deficit/hyperactivity disorder and intra-subject variability in patients with autism spectrum disorder, Biol Psychol, vol.118, pp.25-34, 2016.

E. Schwarz, H. Tost, and A. Meyer-lindenberg, Working memory genetics in schizophrenia and related disorders: an RDoC perspective, Am J Med Genet B Neuropsychiatr Genet, vol.171, pp.121-131, 2016.

A. Zeisel, A. B. Muñoz-manchado, S. Codeluppi, P. Lönnerberg, L. Manno et al., Brain structure. Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq, Science, vol.347, pp.1138-1142, 2015.

X. Xie, P. Rigor, and P. Baldi, MotifMap: a human genome-wide map of candidate regulatory motif sites, Bioinformatics, vol.25, pp.167-174, 2009.

H. Zeng, E. H. Shen, J. G. Hohmann, S. W. Oh, A. Bernard et al., Large-scale cellular-resolution gene profiling in human neocortex reveals species-specific molecular signatures, Cell, vol.149, pp.483-496, 2012.

J. A. Miller, S. L. Ding, S. M. Sunkin, K. A. Smith, L. Ng et al., Transcriptional landscape of the prenatal human brain, Nature, vol.508, pp.199-206, 2014.

X. Sun and Y. Lin, Npas4: linking neuronal activity to memory, Trends Neurosci, vol.39, pp.264-275, 2016.

Y. Lin, B. L. Bloodgood, J. L. Hauser, A. D. Lapan, A. C. Koon et al., Activitydependent regulation of inhibitory synapse development by Npas4, Nature, vol.455, pp.1198-1204, 2008.

I. Spiegel, A. R. Mardinly, H. W. Gabel, J. E. Bazinet, H. C. Couch et al., Npas4 regulates excitatory-inhibitory balance within neural circuits through cell-type-specific gene programs, Cell, vol.157, pp.1216-1229, 2014.

T. K. Kim, M. Hemberg, J. M. Gray, A. M. Costa, D. M. Bear et al., Widespread transcription at neuronal activity-regulated enhancers, Nature, vol.465, pp.182-187, 2010.

N. Mitchell, R. S. Petralia, D. G. Currier, Y. X. Wang, A. Kim et al., Sonic hedgehog regulates presynaptic terminal size, ultrastructure and function in hippocampal neurons, J Cell Sci, vol.125, pp.4207-4213, 2012.

R. S. Petralia, C. M. Schwartz, Y. X. Wang, M. P. Mattson, and P. J. Yao, Subcellular localization of Patched and Smoothened, the receptors for Sonic hedgehog signaling, in the hippocampal neuron, J Comp Neurol, vol.519, pp.3684-3699, 2011.

S. Feng, S. Ma, C. Jia, Y. Su, S. Yang et al., Sonic hedgehog is a regulator of extracellular glutamate levels and epilepsy, EMBO Rep, vol.17, pp.682-694, 2016.

I. Bosanac, H. R. Maun, S. J. Scales, X. Wen, A. Lingel et al., The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling, Nat Struct Mol Biol, vol.16, pp.691-698, 2009.

F. Craig, F. Margari, A. R. Legrottaglie, R. Palumbi, C. De-giambattista et al., A review of executive function deficits in autism spectrum disorder and attentiondeficit/hyperactivity disorder, Neuropsychiatr Dis Treat, vol.12, pp.1191-1202, 2016.