{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T16:51:16Z","timestamp":1786985476201,"version":"build-2736575974"},"reference-count":99,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.braindev.2013.04.013","type":"journal-article","created":{"date-parts":[[2013,5,29]],"date-time":"2013-05-29T16:45:42Z","timestamp":1369845942000},"page":"185-193","source":"Crossref","is-referenced-by-count":68,"title":["Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?"],"prefix":"10.1016","volume":"36","author":[{"given":"Adriana","family":"Lo-Castro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Curatolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2013.04.013_b0005","series-title":"Epilepsy in children","first-page":"21","article-title":"Incidence and prevalence","author":"Forsgren","year":"2004"},{"key":"10.1016\/j.braindev.2013.04.013_b0010","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.braindev.2008.09.009","article-title":"Convulsing toward the pathophysiology of autism","volume":"31","author":"Tuchman","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0015","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1111\/j.1469-8749.2003.tb00881.x","article-title":"Autism spectrum disorders in children with active epilepsy and learning disability: comorbidity, pre- and perinatal background, and seizure characteristics","volume":"45","author":"Steffenburg","year":"2003","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0020","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.braindev.2010.05.005","article-title":"Frequent association of autism spectrum disorder in patients with childhood onset epilepsy","volume":"32","author":"Matsuo","year":"2010","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0025","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1111\/j.1528-1167.2007.01150.x","article-title":"Autism spectrum disorders in children with seizures in the first year of life - a population-based study","volume":"48","author":"Saemundsen","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2013.04.013_b0030","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1192\/bjp.bp.109.076877","article-title":"Epilepsy in autism: features and correlates","volume":"198","author":"Bolton","year":"2011","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0035","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1111\/j.1528-1167.2005.57504.x","article-title":"Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood","volume":"46","author":"Danielsson","year":"2005","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2013.04.013_b0040","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/S0387-7604(99)00124-2","article-title":"Epilepsy in adolescents and young adults with autistic disorder","volume":"22","author":"Giovanardi Rossi","year":"2000","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0045","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.biopsych.2008.04.030","article-title":"Epilepsy in autism is associated with intellectual disability and gender: evidence from a meta-analysis","volume":"64","author":"Amiet","year":"2008","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0050","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1001\/archneur.1988.00520300086024","article-title":"Epilepsy in autism and autisticlike conditions. A population-based study","volume":"45","author":"Olsson","year":"1988","journal-title":"Arch Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0055","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1111\/j.1469-8749.1974.tb03395.x","article-title":"A study of children with epilepsy attending ordinary schools. I. Their seizure patterns, progress and behaviour in school","volume":"16","author":"Holdsworth","year":"1974","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0060","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1111\/j.1469-8749.2003.tb00398.x","article-title":"A population survey of mental health problems in children with epilepsy","volume":"45","author":"Davies","year":"2003","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0065","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1111\/j.1528-1167.2007.01028.x","article-title":"ADHD, neurological correlates and health-related quality of life in severe pediatric epilepsy","volume":"48","author":"Sherman","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.braindev.2013.04.013_b0070","unstructured":"American psychiatric association. diagnostic and statistical manual of mental disorders. Text revised. 4th-TR ed. Washington DC: American Psychiatric Association Press; 2000."},{"key":"10.1016\/j.braindev.2013.04.013_b0075","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1089\/cap.2006.16.737","article-title":"Attention-deficit hyperactivity disorder symptoms in a clinic sample of children and adolescents with pervasive developmental disorders","volume":"16","author":"Lee","year":"2006","journal-title":"J Child Adolesc Psychopharmacol"},{"key":"10.1016\/j.braindev.2013.04.013_b0080","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1007\/s10803-010-1095-7","article-title":"Kiddie-SADS reveals high rates of DSM-IV disorders in children and adolescents with autism spectrum disorders","volume":"41","author":"Gjevik","year":"2011","journal-title":"J Autism Dev Disord"},{"key":"10.1016\/j.braindev.2013.04.013_b0085","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1111\/j.1469-7610.2006.01720.x","article-title":"Autistic traits in a population-based ADHD twin sample","volume":"48","author":"Reiersen","year":"2007","journal-title":"J Child Psychol Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0090","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.braindev.2009.03.005","article-title":"Attention deficit hyperactivity disorder in children with epilepsy","volume":"32","author":"Parisi","year":"2010","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0095","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.gde.2009.04.004","article-title":"Genetic advances in autism: heterogeneity and convergence on shared pathways","volume":"19","author":"Bill","year":"2009","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0100","doi-asserted-by":"crossref","first-page":"e1003221","DOI":"10.1371\/journal.pgen.1003221","article-title":"Function and regulation of AUTS2, a gene implicated in autism and human evolution","volume":"9","author":"Oksenberg","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0105","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1186\/1471-2350-12-106","article-title":"Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1","volume":"12","author":"Gregor","year":"2011","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0110","doi-asserted-by":"crossref","first-page":"2826","DOI":"10.1002\/ajmg.a.34255","article-title":"Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters","volume":"155A","author":"Harrison","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.braindev.2013.04.013_b0115","doi-asserted-by":"crossref","first-page":"e9401","DOI":"10.1371\/journal.pone.0009401","article-title":"Hotspots of large rare deletions in the human genome","volume":"5","author":"Bradley","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2013.04.013_b0120","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/nature07953","article-title":"Autism genome-wide copy number variation reveals ubiquitin and neuronal genes","volume":"459","author":"Glessner","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.braindev.2013.04.013_b0125","doi-asserted-by":"crossref","first-page":"95ra75","DOI":"10.1126\/scitranslmed.3002464","article-title":"Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD","volume":"3","author":"Lionel","year":"2011","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.braindev.2013.04.013_b0130","doi-asserted-by":"crossref","first-page":"6766","DOI":"10.1073\/pnas.0812687106","article-title":"Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures","volume":"106","author":"Kerjan","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.braindev.2013.04.013_b0135","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/mp.2009.57","article-title":"Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes","volume":"15","author":"Elia","year":"2010","journal-title":"Mol Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0140","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.cell.2011.08.040","article-title":"Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits","volume":"147","author":"Pe\u00f1agarikano","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.braindev.2013.04.013_b0145","doi-asserted-by":"crossref","first-page":"e1000962","DOI":"10.1371\/journal.pgen.1000962","article-title":"Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies","volume":"6","author":"Mefford","year":"2010","journal-title":"PLoS Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0150","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/s10048-011-0297-2","article-title":"Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism","volume":"12","author":"van Daalen","year":"2011","journal-title":"Neurogenetics"},{"key":"10.1016\/j.braindev.2013.04.013_b0155","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/hmg\/ddr122","article-title":"SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function","volume":"20","author":"Fassio","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0160","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jmg.2003.013680","article-title":"Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy","volume":"41","author":"Garcia","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0165","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/humu.22248","article-title":"Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency","volume":"34","author":"Berryer","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2013.04.013_b0170","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jmg.2008.064378","article-title":"Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders","volume":"46","author":"Ben-Shachar","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0175","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng.292","article-title":"15q13.3 microdeletions increase risk of idiopathic generalized epilepsy","volume":"41","author":"Helbig","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0180","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1136\/jmg.2008.059907","article-title":"Microdeletion\/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders","volume":"46","author":"Miller","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0185","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/ejhg.2009.152","article-title":"The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype","volume":"18","author":"van Bon","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0190","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.ajhg.2011.09.011","article-title":"Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder","volume":"89","author":"Talkowski","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0195","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1038\/nrn919","article-title":"Is there more to GABA than synaptic inhibition?","volume":"3","author":"Owens","year":"2002","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0200","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1152\/jn.00729.2010","article-title":"Distinct maturation profiles of perisomatic and dendritic targeting GABAergic interneurons in the mouse primary visual cortex during the critical period of ocular dominance plasticity","volume":"106","author":"Lazarus","year":"2011","journal-title":"J Neurophysiol"},{"key":"10.1016\/j.braindev.2013.04.013_b0205","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1177\/1073858403253552","article-title":"Disruption in the inhibitory architecture of the cell minicolumn: implications for autism","volume":"9","author":"Casanova","year":"2003","journal-title":"Neuroscientist"},{"key":"10.1016\/j.braindev.2013.04.013_b0210","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.brainres.2010.11.078","article-title":"Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting","volume":"1380","author":"Betancur","year":"2011","journal-title":"Brain Res"},{"key":"10.1016\/j.braindev.2013.04.013_b0215","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1038\/nn.2327","article-title":"Ube3a is required for experience-dependent maturation of the neocortex","volume":"12","author":"Yashiro","year":"2009","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0220","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1007\/s10803-010-1065-0","article-title":"Non-invasive evaluation of the GABAergic\/glutamatergic system in autistic patients observed by MEGA-editing proton MR spectroscopy using a clinical 3 tesla instrument","volume":"41","author":"Harada","year":"2011","journal-title":"J Autism Dev Disord"},{"key":"10.1016\/j.braindev.2013.04.013_b0225","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/j.braindev.2011.10.007","article-title":"Evaluation of the GABAergic nervous system in autistic brain: (123)I-iomazenil SPECT study","volume":"34","author":"Mori","year":"2012","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0230","doi-asserted-by":"crossref","first-page":"e38786","DOI":"10.1371\/journal.pone.0038786","article-title":"Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI","volume":"7","author":"Bejjani","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2013.04.013_b0235","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1523\/JNEUROSCI.5050-08.2009","article-title":"Dopamine D4 receptors regulate AMPA receptor trafficking and glutamatergic transmission in GABAergic interneurons of prefrontal cortex","volume":"29","author":"Yuen","year":"2009","journal-title":"J Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0240","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.conb.2007.01.009","article-title":"Autism spectrum disorders: developmental disconnection syndromes","volume":"17","author":"Geschwind","year":"2007","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/j.braindev.2013.04.013_b0245","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1469-7610.2004.00402.x","article-title":"Practitioner review: early adversity and developmental disorders","volume":"46","author":"Taylor","year":"2005","journal-title":"J Child Psychol Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0250","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/S0006-3223(02)01430-0","article-title":"Glutamic acid decarboxylase 65 and 67kDa proteins are reduced in autistic parietal and cerebellar cortices","volume":"52","author":"Fatemi","year":"2002","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0255","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1111\/j.1471-4159.2010.07043.x","article-title":"GAD65 is essential for synthesis of GABA destined for tonic inhibition regulating epileptiform activity","volume":"115","author":"Walls","year":"2010","journal-title":"J Neurochem"},{"key":"10.1016\/j.braindev.2013.04.013_b0260","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1038\/nn1499","article-title":"Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy","volume":"8","author":"Cobos","year":"2005","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0265","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ejhg.2008.148","article-title":"The DLX1and DLX2 genes and susceptibility to autism spectrum disorders","volume":"17","author":"Liu","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0270","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.clineuro.2008.03.007","article-title":"Expansion of the ARX spectrum","volume":"110","author":"Wallerstein","year":"2008","journal-title":"Clin Neurol Neurosurg"},{"key":"10.1016\/j.braindev.2013.04.013_b0275","doi-asserted-by":"crossref","first-page":"10674","DOI":"10.1523\/JNEUROSCI.1283-08.2008","article-title":"Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons","volume":"28","author":"Colasante","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0280","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.brainres.2008.11.075","article-title":"Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor\/ataxia syndrome (FXTAS)","volume":"1253","author":"D\u2019Hulst","year":"2009","journal-title":"Brain Res"},{"key":"10.1016\/j.braindev.2013.04.013_b0285","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/nature09582","article-title":"Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes","volume":"468","author":"Chao","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.braindev.2013.04.013_b0290","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1159\/000332928","article-title":"Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research","volume":"135","author":"Hochstenbach","year":"2011","journal-title":"Cytogenet Genome Res"},{"key":"10.1016\/j.braindev.2013.04.013_b0295","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awp262","article-title":"Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies","volume":"133","author":"de Kovel","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.braindev.2013.04.013_b0300","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1097\/DBP.0b013e3181ea50ed","article-title":"Cognitive and behavioral characterization of 16p11.2 deletion syndrome","volume":"31","author":"Hanson","year":"2010","journal-title":"J Dev Behav Pediatr"},{"key":"10.1016\/j.braindev.2013.04.013_b0305","doi-asserted-by":"crossref","first-page":"e4582","DOI":"10.1371\/journal.pone.0004582","article-title":"Association and mutation analyses of 16p11.2 autism candidate genes","volume":"4","author":"Kumar","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.braindev.2013.04.013_b0310","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1136\/jmg.2009.073015","article-title":"Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size","volume":"47","author":"Shinawi","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0315","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/jhg.2011.42","article-title":"16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders","volume":"56","author":"Ramalingam","year":"2011","journal-title":"J Hum Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0320","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1001\/archneurol.2011.1999","article-title":"Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization","volume":"69","author":"Striano","year":"2012","journal-title":"Arch Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0325","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1192\/bjp.bp.111.092130","article-title":"Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants","volume":"199","author":"Langley","year":"2011","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0330","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1016\/S0140-6736(10)61109-9","article-title":"Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis","volume":"376","author":"Williams","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.braindev.2013.04.013_b0335","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/mp.2010.29","article-title":"Genome-wide copy number variation analysis in attention-deficit\/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree","volume":"16","author":"Lesch","year":"2011","journal-title":"Mol Psychiatry"},{"key":"10.1016\/j.braindev.2013.04.013_b0340","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1097\/GIM.0b013e318194ee8f","article-title":"Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects","volume":"11","author":"Sagoo","year":"2009","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2013.04.013_b0345","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.jpeds.2006.02.006","article-title":"Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases","volume":"149","author":"Shaffer","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.braindev.2013.04.013_b0350","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.909","article-title":"A copy number variation morbidity map of developmental delay","volume":"43","author":"Cooper","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0355","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ajhg.2007.12.009","article-title":"Structural variation of chromosomes in autism spectrum disorder","volume":"82","author":"Marshall","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0360","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.ejmg.2011.12.011","article-title":"Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities","volume":"55","author":"Galizia","year":"2012","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0365","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1056\/NEJMoa1200395","article-title":"Phenotypic heterogeneity of genomic disorders and rare copy-number variants","volume":"367","author":"Girirajan","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.braindev.2013.04.013_b0370","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/ng.534","article-title":"A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay","volume":"42","author":"Girirajan","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0375","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/2040-2392-3-9","article-title":"Common genetic variants, acting additively, are a major source of risk for autism","volume":"3","author":"Klei","year":"2012","journal-title":"Mol Autism"},{"key":"10.1016\/j.braindev.2013.04.013_b0380","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1212\/WNL.0b013e3182395d81","article-title":"So what? Does the test lead to improved health outcomes?","volume":"77","author":"Trevathan","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.braindev.2013.04.013_b0385","doi-asserted-by":"crossref","first-page":"107","DOI":"10.5698\/1535-7511-11.4.107","article-title":"Genetic testing in epilepsy: what should you be doing?","volume":"11","author":"Scheffer","year":"2011","journal-title":"Epilepsy Curr"},{"key":"10.1016\/j.braindev.2013.04.013_b0390","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.braindev.2013.04.013_b0395","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1177\/0883073809341272","article-title":"Attention-deficit hyperactivity disorder (ADHD) and tuberous sclerosis complex","volume":"24","author":"D\u2019Agati","year":"2009","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0400","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.braindev.2008.09.013","article-title":"Recent advances in neurobiology of tuberous sclerosis complex","volume":"31","author":"Napolioni","year":"2009","journal-title":"Brain Dev"},{"key":"10.1016\/j.braindev.2013.04.013_b0405","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ana.10648","article-title":"Impaired glial glutamate transport in a mouse tuberous sclerosis epilepsy model","volume":"54","author":"Wong","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0410","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1093\/cercor\/bhr300","article-title":"GABAergic interneuron development and function is modulated by the Tsc1 gene","volume":"22","author":"Fu","year":"2012","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.braindev.2013.04.013_b0415","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.nbd.2007.07.015","article-title":"Abnormal glutamate homeostasis and impaired synaptic plasticity and learning in a mouse model of tuberous sclerosis complex","volume":"28","author":"Zeng","year":"2007","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.braindev.2013.04.013_b0420","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/nm1788","article-title":"Reversal of learning deficits in a Tsc2+\/\u2212 mouse model of tuberous sclerosis","volume":"14","author":"Ehninger","year":"2008","journal-title":"Nat Med"},{"key":"10.1016\/j.braindev.2013.04.013_b0425","doi-asserted-by":"crossref","first-page":"5422","DOI":"10.1523\/JNEUROSCI.0955-08.2008","article-title":"Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function","volume":"28","author":"Meikle","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0430","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1002\/ana.21331","article-title":"Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex","volume":"63","author":"Zeng","year":"2008","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0435","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/2040-2392-1-12","article-title":"Fragile X and autism: intertwined at the molecular level leading to targeted treatments","volume":"1","author":"Hagerman","year":"2010","journal-title":"Mol Autism"},{"key":"10.1016\/j.braindev.2013.04.013_b0440","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1016\/j.molmed.2010.08.005","article-title":"Potential therapeutic interventions for fragile X syndrome","volume":"16","author":"Levenga","year":"2010","journal-title":"Trends Mol Med"},{"key":"10.1016\/j.braindev.2013.04.013_b0445","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1159\/000329420","article-title":"Fragile X Syndrome: the GABAergic system and circuit dysfunction","volume":"33","author":"Paluszkiewicz","year":"2011","journal-title":"Dev Neurosci"},{"key":"10.1016\/j.braindev.2013.04.013_b0450","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1136\/jmg.2008.063701","article-title":"A pilot open label, single dose trial of fenobam in adults with fragile X syndrome","volume":"46","author":"Berry-Kravis","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0455","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1007\/s10803-010-0988-9","article-title":"Brief report: acamprosate in fragile X syndrome","volume":"40","author":"Erickson","year":"2010","journal-title":"J Autism Dev Disord"},{"key":"10.1016\/j.braindev.2013.04.013_b0460","doi-asserted-by":"crossref","first-page":"64ra1","DOI":"10.1126\/scitranslmed.3001708","article-title":"Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056","volume":"3","author":"Jacquemont","year":"2011","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.braindev.2013.04.013_b0465","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/978-3-642-21649-7_12","article-title":"Taking STEPs forward to understand fragile X syndrome","volume":"54","author":"Goebel-Goody","year":"2012","journal-title":"Results Probl Cell Differ"},{"key":"10.1016\/j.braindev.2013.04.013_b0470","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1126\/science.1224631","article-title":"Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy","volume":"338","author":"Novarino","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.braindev.2013.04.013_b0475","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1002\/ajmg.b.30663","article-title":"Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)","volume":"147B","author":"Kakinuma","year":"2008","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0480","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1093\/hmg\/ddq307","article-title":"A genome-wide scan for common alleles affecting risk for autism","volume":"19","author":"Anney","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0485","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1177\/0883073810377658","article-title":"An emerging 1q21.1 deletion-associated neurodevelopmental phenotype","volume":"26","author":"Basel-Vanagaite","year":"2011","journal-title":"J Child Neurol"},{"key":"10.1016\/j.braindev.2013.04.013_b0490","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/ng.279","article-title":"Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities","volume":"40","author":"Brunetti-Pierri","year":"2008","journal-title":"Nat Genet"},{"key":"10.1016\/j.braindev.2013.04.013_b0495","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/ejhg.2009.199","article-title":"Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures","volume":"18","author":"Williams","year":"2010","journal-title":"Eur J Hum Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760413001629?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760413001629?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,15]],"date-time":"2018-10-15T13:29:26Z","timestamp":1539610166000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760413001629"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":99,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["S0387760413001629"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2013.04.013","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3]]}}}