S. E. Folstein and B. Rosen-sheidley, Genetics of austim: complex aetiology for a heterogeneous disorder, Nature Reviews Genetics, vol.322, issue.12, pp.943-955, 2001.
DOI : 10.1038/35103559

B. S. Abrahams and D. H. Geschwind, 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

J. Hallmayer, S. Cleveland, A. Torres, J. Phillips, B. Cohen et al., Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism, Archives of General Psychiatry, vol.68, issue.11, pp.1095-1102, 2011.
DOI : 10.1001/archgenpsychiatry.2011.76

B. S. Abrahams and D. H. Geschwind, Genetics of Autism, in Human Genetics: Problems & Approaches, 2010.

M. W. State and P. Levitt, The conundrums of understanding genetic risks for autism spectrum disorders, Nature Neuroscience, vol.153, issue.12, pp.1499-1506, 2011.
DOI : 10.1038/nature08537

K. A. Strauss, E. G. Puffenberger, M. J. Huentelman, S. Gottlieb, S. E. Dobrin et al., 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

M. Bucan, B. S. Abrahams, K. Wang, J. T. Glessner, E. I. Herman et al., Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes, PLoS Genetics, vol.4, issue.6, p.1000536, 2009.
DOI : 10.1371/journal.pgen.1000536.s007

B. Bakkaloglu, B. J. O-'roak, A. Louvi, A. R. Gupta, J. F. Abelson et al., Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders, The American Journal of Human Genetics, vol.82, issue.1, pp.165-173, 2008.
DOI : 10.1016/j.ajhg.2007.09.017

A. S. Nord, W. Roeb, D. E. Dickel, T. Walsh, M. Kusenda et al., Reduced transcript expression of genes affected by inherited and de novo CNVs in autism, European Journal of Human Genetics, vol.19, issue.6, pp.727-731, 2011.
DOI : 10.1097/00001756-200408260-00031

O. 'roak, B. J. Deriziotis, P. Lee, C. Vives, L. Schwartz et al., Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations, Nature Genetics, vol.18, issue.6, pp.585-589, 2011.
DOI : 10.1371/journal.pgen.1001157

C. Jackman, N. D. Horn, J. P. Molleston, and D. K. Sokol, Gene Associated with Seizures, Autism, and Hepatomegaly in an Amish Girl, Pediatric Neurology, vol.40, issue.4, pp.310-313, 2009.
DOI : 10.1016/j.pediatrneurol.2008.10.013

C. Zweier, E. K. De-jong, M. Zweier, A. Orrico, L. B. Ousager et al., CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila, The American Journal of Human Genetics, vol.85, issue.5, pp.655-666, 2009.
DOI : 10.1016/j.ajhg.2009.10.004

M. Poot, V. Beyer, I. Schwaab, N. Damatova, R. Van-'t-slot et al., Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder, neurogenetics, vol.7, issue.1, pp.81-89, 2010.
DOI : 10.1007/s10048-009-0205-1

F. M. Mikhail, E. J. Lose, N. H. Robin, M. D. Descartes, K. D. Rutledge et al., Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders, American Journal of Medical Genetics Part A, vol.31, issue.10, pp.2386-2396, 2011.
DOI : 10.1002/ajmg.a.34177

H. C. Mefford, H. Muhle, P. Ostertag, S. Von-spiczak, K. Buysse et al., 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

J. M. Belloso, I. Bache, M. Guitart, M. R. Caballin, C. Halgren et al., Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome, European Journal of Human Genetics, vol.85, issue.6, pp.711-713, 2007.
DOI : 10.1038/sj.ejhg.5201592

J. I. Friedman, T. Vrijenhoek, S. Markx, I. M. Janssen, W. A. Van-der-vliet et al., CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy, Molecular Psychiatry, vol.48, issue.3, pp.261-266, 2008.
DOI : 10.1073/pnas.92.17.7612

J. Elia, X. Gai, H. M. Xie, J. C. Perin, E. Geiger et al., Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes, Molecular Psychiatry, vol.455, issue.6, pp.637-683, 2010.
DOI : 10.1007/s11920-007-0057-z
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877197

D. E. Arking, D. J. Cutler, C. W. Brune, T. M. Teslovich, K. West et al., A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism, The American Journal of Human Genetics, vol.82, issue.1, pp.160-164, 2008.
DOI : 10.1016/j.ajhg.2007.09.015

A. J. Whitehouse, D. V. Bishop, Q. W. Ang, C. E. Pennell, and S. E. Fisher, variants affect early language development in the general population, Genes, Brain and Behavior, vol.48, issue.4, pp.451-456, 2011.
DOI : 10.1111/j.1601-183X.2011.00684.x

M. Alarcón, B. S. Abrahams, J. L. Stone, J. A. Duvall, J. V. Perederiy et al., Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene, The American Journal of Human Genetics, vol.82, issue.1, pp.150-159, 2008.
DOI : 10.1016/j.ajhg.2007.09.005

S. C. Vernes, D. F. Newbury, B. S. Abrahams, L. Winchester, J. Nicod et al., A Functional Genetic Link between Distinct Developmental Language Disorders, New England Journal of Medicine, vol.359, issue.22, pp.2337-2345, 2008.
DOI : 10.1056/NEJMoa0802828

H. C. Whalley, G. O-'connell, J. E. Sussmann, A. Peel, A. C. Stanfield et al., Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.30, issue.44, pp.941-948, 2011.
DOI : 10.1002/ajmg.b.31241

G. C. Tan, T. F. Doke, J. Ashburner, N. W. Wood, and R. S. Frackowiak, Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2, NeuroImage, vol.53, issue.3, pp.1030-1042, 2010.
DOI : 10.1016/j.neuroimage.2010.02.018

A. A. Scott-van-zeeland, B. S. Abrahams, A. I. Alvarez-retuerto, L. I. Sonnenblick, J. D. Rudie et al., Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2, Science Translational Medicine, vol.2, issue.56, pp.56-80, 2010.
DOI : 10.1126/scitranslmed.3001344

S. Poliak, L. Gollan, R. Martinez, A. Custer, S. Einheber et al., Caspr2, a New Member of the Neurexin Superfamily, Is Localized at the Juxtaparanodes of Myelinated Axons and Associates with K+ Channels, Neuron, vol.24, issue.4, pp.1037-1047, 1999.
DOI : 10.1016/S0896-6273(00)81049-1

S. Poliak, D. Salomon, H. Elhanany, H. Sabanay, B. Kiernan et al., channels in myelinated axons depends on Caspr2 and TAG-1, The Journal of Cell Biology, vol.19, issue.6, pp.1149-1160, 2003.
DOI : 10.1126/science.283.5406.1343

M. Traka, J. L. Dupree, B. Popko, and D. Karagogeos, The neuronal adhesion protein TAG-1 is expressed by Schwann cells and oligodendrocytes and is localized to the juxtaparanodal region of myelinated fibers, J. Neurosci, vol.22, pp.3016-3024, 2002.

A. Tzimourakas, S. Giasemi, M. Mouratidou, and D. Karagogeos, Structure-function analysis of protein complexes involved in the molecular architecture of juxtaparanodal regions of myelinated fibers, Biotechnology Journal, vol.11, issue.5, pp.577-583, 2007.
DOI : 10.1002/biot.200700023

M. C. Inda, J. Defelipe, and A. Munoz, Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells, Proceedings of the National Academy of Sciences, vol.103, issue.8, pp.2920-2925, 2006.
DOI : 10.1073/pnas.0511197103

Y. Ogawa, D. P. Schafer, I. Horresh, V. Bar, K. Hales et al., Postsynaptic Density-93 Clusters Kv1 Channels at Axon Initial Segments Independently of Caspr2, Journal of Neuroscience, vol.28, issue.22, pp.5731-5739, 2008.
DOI : 10.1523/JNEUROSCI.4431-07.2008

C. Bel, K. Oguievetskaia, K. Pitaval, C. Goutebroze, L. Faivre-sarrailh et al., Axonal targeting of Caspr2 in hippocampal neurons via selective somatodendritic endocytosis, Journal of Cell Science, vol.122, issue.18, pp.3403-3413, 2009.
DOI : 10.1242/jcs.050526
URL : https://hal.archives-ouvertes.fr/hal-00417338

A. Helenius and M. Aebi, Roles of N-Linked Glycans in the Endoplasmic Reticulum, Annual Review of Biochemistry, vol.73, issue.1, pp.1019-1049, 2004.
DOI : 10.1146/annurev.biochem.73.011303.073752

F. Maley, R. B. Trimble, A. L. Tarentino, T. H. Plummer, and . Jr, Characterization of glycoproteins and their associated oligosaccharides through the use of endoglycosidases, Analytical Biochemistry, vol.180, issue.2, pp.195-204, 1989.
DOI : 10.1016/0003-2697(89)90115-2

D. Jaco, A. Comoletti, D. Kovarik, Z. Gaietta, G. Radic´ et al., A Mutation Linked with Autism Reveals a Common Mechanism of Endoplasmic Reticulum Retention for the ??,beta-Hydrolase Fold Protein Family, Journal of Biological Chemistry, vol.281, issue.14, pp.9667-9676, 2006.
DOI : 10.1074/jbc.M510262200

D. Comoletti, R. Flynn, L. L. Jennings, A. Chubykin, T. Matsumura et al., Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1beta, 2003.

Y. F. Chang, J. S. Imam, and M. F. Wilkinson, The Nonsense-Mediated Decay RNA Surveillance Pathway, Annual Review of Biochemistry, vol.76, issue.1, pp.51-74, 2007.
DOI : 10.1146/annurev.biochem.76.050106.093909

M. Bhuvanagiri, A. M. Schlitter, M. W. Hentze, and A. E. Kulozik, NMD: RNA biology meets human genetic medicine, Biochemical Journal, vol.161, issue.3, pp.365-377, 2010.
DOI : 10.1056/NEJM199907153410304
URL : http://mediatum.ub.tum.de/doc/1073887/document.pdf

M. H. Smith, H. L. Ploegh, and J. S. Weissman, Road to Ruin: Targeting Proteins for Degradation in the Endoplasmic Reticulum, Science, vol.334, issue.6059, pp.1086-1090, 2011.
DOI : 10.1126/science.1209235

C. Zhang, J. M. Milunsky, S. Newton, J. Ko, G. Zhao et al., A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export, Journal of Neuroscience, vol.29, issue.35, pp.10843-10854, 2009.
DOI : 10.1523/JNEUROSCI.1248-09.2009

H. Taniguchi, L. Gollan, F. G. Scholl, V. Mahadomrongkul, E. Dobler et al., Silencing of Neuroligin Function by Postsynaptic Neurexins, Journal of Neuroscience, vol.27, issue.11, pp.2815-2824, 2007.
DOI : 10.1523/JNEUROSCI.0032-07.2007

C. Dean, L. Gollan, F. G. Scholl, V. Mahadomrongkul, E. Dobler et al., Neurexin mediates the assembly of presynaptic terminals, Nature Neuroscience, vol.6, issue.7, pp.708-716, 2003.
DOI : 10.1038/nn1074

O. Peñagarikano, B. S. Abrahams, E. I. Herman, K. D. Winden, A. Gdalyahu et al., Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits, Cell, vol.147, issue.1, pp.235-246, 2011.
DOI : 10.1016/j.cell.2011.08.040

A. Chakrabarti, A. W. Chen, and J. D. Varner, A review of the mammalian unfolded protein response, Biotechnology and Bioengineering, vol.21, issue.12, pp.2777-2793, 2011.
DOI : 10.1002/bit.23282

S. Matus, L. H. Glimcher, and C. Hetz, Protein folding stress in neurodegenerative diseases: a glimpse into the ER, Current Opinion in Cell Biology, vol.23, issue.2, pp.239-252, 2011.
DOI : 10.1016/j.ceb.2011.01.003

E. Fujita, H. Dai, Y. Tanabe, Y. Zhiling, T. Yamagata et al., Autism spectrum disorder is related to endoplasmic reticulum stress induced by mutations in the synaptic cell adhesion molecule, CADM1, Cell Death & Disease, vol.14, issue.6, p.47, 2010.
DOI : 10.1038/cddis.2010.23

B. Chih, S. K. Afridi, L. Clark, and P. Scheiffele, Disorder-associated mutations lead to functional inactivation of neuroligins, Human Molecular Genetics, vol.13, issue.14, pp.1471-1477, 2004.
DOI : 10.1093/hmg/ddh158

D. Comoletti, M. T. Miller, C. M. Jeffries, J. Wilson, B. Demeler et al., The Macromolecular Architecture of Extracellular Domain of ??NRXN1: Domain Organization, Flexibility, and Insights into Trans-Synaptic Disposition, Structure, vol.18, issue.8, pp.1044-1053, 2010.
DOI : 10.1016/j.str.2010.06.005

M. Miller, M. Mileni, D. Comoletti, R. C. Stevens, M. Harel et al., The Crystal Structure of the ??-Neurexin-1 Extracellular Region Reveals a Hinge Point for Mediating Synaptic Adhesion and Function, Structure, vol.19, issue.6, pp.767-778, 2011.
DOI : 10.1016/j.str.2011.03.011

D. Jaco, A. Lin, M. Z. Dubi, N. Comoletti, D. Miller et al., Neuroligin Trafficking Deficiencies Arising from Mutations in the ??/??-Hydrolase Fold Protein Family, Journal of Biological Chemistry, vol.285, issue.37, pp.28674-28682, 2010.
DOI : 10.1074/jbc.M110.139519

S. Mizushima and S. Nagata, pEF-BOS, a powerful mammalian expression vector, Nucleic Acids Research, vol.18, issue.17, p.5322, 1990.
DOI : 10.1093/nar/18.17.5322

M. J. Davies, E. Miranda, B. D. Roussel, R. J. Kaufman, S. J. Marciniak et al., Neuroserpin Polymers Activate NF-??B by a Calcium Signaling Pathway That Is Independent of the Unfolded Protein Response, Journal of Biological Chemistry, vol.284, issue.27, pp.18202-18209, 2009.
DOI : 10.1074/jbc.M109.010744