Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nature Genetics, vol.28, issue.1, pp.25-32, 2007. ,
DOI : 10.1038/ng1933
URL : https://hal.archives-ouvertes.fr/inserm-00126175
Contribution of SHANK3 Mutations to Autism Spectrum Disorder, The American Journal of Human Genetics, vol.81, issue.6, pp.1289-97, 2007. ,
DOI : 10.1086/522590
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments, PLoS Genetics, vol.22, issue.6, p.1004580, 2014. ,
DOI : 10.1371/journal.pgen.1004580.s019
URL : https://hal.archives-ouvertes.fr/inserm-01061498
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders, European Journal of Human Genetics, vol.17, issue.3, pp.310-316, 2013. ,
DOI : 10.1038/ejhg.2012.175
in patients ascertained for schizophrenia, Proceedings of the National Academy of Sciences, vol.107, issue.17, pp.7863-7871, 2010. ,
DOI : 10.1073/pnas.0906232107
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability, The American Journal of Human Genetics, vol.88, issue.3, pp.306-322, 2011. ,
DOI : 10.1016/j.ajhg.2011.02.001
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism, Epilepsia, vol.64, issue.Web Server issu, pp.1526-1564, 2012. ,
DOI : 10.1111/j.1528-1167.2012.03559.x
Modeling Autism by SHANK Gene Mutations in Mice, Neuron, vol.78, issue.1, pp.8-27, 2013. ,
DOI : 10.1016/j.neuron.2013.03.016
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome, PLoS Genetics, vol.42, issue.7, p.1002173, 2011. ,
DOI : 10.1371/journal.pgen.1002173.s009
Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases, Seizure, vol.23, issue.9, pp.774-783, 2014. ,
DOI : 10.1016/j.seizure.2014.06.008
Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder, PLOS ONE, vol.311, issue.2, p.116358, 2015. ,
DOI : 10.1371/journal.pone.0116358.s005
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient ,
Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities, Brain Research, vol.1380, pp.98-105, 2011. ,
DOI : 10.1016/j.brainres.2010.11.005
Medical genomics: The intricate path from genetic variant identification to clinical interpretation, Applied & Translational Genomics, vol.3, issue.3, pp.60-67, 2014. ,
DOI : 10.1016/j.atg.2014.06.001
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion, European Journal of Medical Genetics, vol.55, issue.11, pp.625-634, 2012. ,
DOI : 10.1016/j.ejmg.2012.07.009
Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports, BMC Psychiatry, vol.4, issue.7, p.107, 2015. ,
DOI : 10.1002/dneu.22084
Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills, Molecular Syndromology, vol.3, issue.1, pp.14-20, 2012. ,
DOI : 10.1159/000339119
Phelan-McDermid syndrome: Clinical report of a 70-year-old woman, American Journal of Medical Genetics Part A, vol.16, issue.1, pp.158-61, 2013. ,
DOI : 10.1002/ajmg.a.35597
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.659-85, 1994. ,
DOI : 10.1007/BF02172145
Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS), Journal of Autism and Developmental Disorders, vol.1, issue.1, pp.91-103, 1980. ,
DOI : 10.1007/BF02408436
Psychoeducational profile revised, 1990. ,
Presentation of a French scale of tests for infants, Ann Med Psychol, vol.108, issue.14, p.499, 1950. ,
Batterie d'Evaluations des Fonctions Neuro-Motrices de l'enfant (NP-MOT) Paris (France): Edition du Centre de Psychologie Appliquée, 2006. ,
Revisiting Regression in Autism: Heller???s Dementia Infantilis, Journal of Autism and Developmental Disorders, vol.11, issue.3, pp.265-71, 2013. ,
DOI : 10.1007/s10803-012-1559-z
Prevalence of Childhood Disintegrative Disorder, Autism, vol.95, issue.2, pp.149-57, 2002. ,
DOI : 10.1177/1362361302006002002
Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency, Journal of Autism and Developmental Disorders, vol.63, issue.1, pp.2207-2217, 2013. ,
DOI : 10.1007/s10803-013-1762-6
Late onset autism and anti-NMDA-receptor encephalitis, The Lancet, vol.378, issue.9785, p.98, 2011. ,
DOI : 10.1016/S0140-6736(11)60548-5
Shank Expression Is Sufficient to Induce Functional Dendritic Spine Synapses in Aspiny Neurons, Journal of Neuroscience, vol.25, issue.14, pp.3560-70, 2005. ,
DOI : 10.1523/JNEUROSCI.4354-04.2005
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood, PEDIATRICS, vol.122, issue.2, pp.376-82, 2008. ,
DOI : 10.1542/peds.2007-2584
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID, Molecular Autism, vol.200, issue.1, p.23, 2015. ,
DOI : 10.1186/s13229-015-0020-5
FISH-mapping of a 100-kb terminal 22q13 deletion, Human Genetics, vol.110, issue.5, pp.439-482, 2002. ,
DOI : 10.1007/s00439-002-0713-7