{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T18:51:44Z","timestamp":1787597504473,"version":"build-2736575974"},"reference-count":176,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T00:00:00Z","timestamp":1658102400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Medical Student Research Fund"},{"name":"Student Research Fellowship Fund"},{"name":"Gruber Science Fellowship"},{"DOI":"10.13039\/100011765","name":"Rudi Schulte Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011765","id-type":"DOI","asserted-by":"publisher"}]},{"name":"K99\/R00 Pathway to Independence Award","award":["K99HL143036"],"award-info":[{"award-number":["K99HL143036"]}]},{"name":"K99\/R00 Pathway to Independence Award","award":["R00HL143036-02"],"award-info":[{"award-number":["R00HL143036-02"]}]},{"DOI":"10.13039\/100016376","name":"Hydrocephalus Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016376","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clinical & Translational Research Funding Program","award":["CTSA1405"],"award-info":[{"award-number":["CTSA1405"]}]},{"name":"Children\u2019s Discovery Institute Faculty Scholar award","award":["CDI-FR-2021-926"],"award-info":[{"award-number":["CDI-FR-2021-926"]}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley\u2013McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia. These findings suggest that genetic factors contribute to AC pathogenesis. However, traditional linkage and segregation approaches have been limited in their ability to identify causative genes for ACs because the disease is genetically heterogeneous and often presents asymptomatically and sporadically. Here, we comprehensively review theories of AC pathogenesis, the genetic evidence for AC formation, and discuss a different approach to AC genomics that could help elucidate this perplexing lesion and shed light on the associated neurodevelopmental phenotypes seen in a significant subset of these patients.<\/jats:p>","DOI":"10.1093\/cercor\/bhac257","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:28:05Z","timestamp":1658190485000},"page":"3012-3025","source":"Crossref","is-referenced-by-count":16,"title":["Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis"],"prefix":"10.1093","volume":"33","author":[{"given":"Hanya M","family":"Qureshi","sequence":"first","affiliation":[{"name":"Department of Neurosurgery , Yale University School of Medicine, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kedous Y","family":"Mekbib","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery , Yale University School of Medicine, New Haven, CT 06510 , United States"},{"name":"Department of Neurosurgery , Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5458-6129","authenticated-orcid":false,"given":"Garrett","family":"Allington","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery , Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 , United States"},{"name":"Department of Pathology , Yale University School of Medicine, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aladine A","family":"Elsamadicy","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery , Yale University School of Medicine, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phan Q","family":"Duy","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery , Yale University School of Medicine, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam J","family":"Kundishora","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery , Yale University School of Medicine, New Haven, CT 06510 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng Chih","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Genetics , Washington University School of Medicine, St. Louis, MO 63110 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristopher T","family":"Kahle","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery , Yale University School of Medicine, New Haven, CT 06510 , United States"},{"name":"Department of Neurosurgery , Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 , United States"},{"name":"Division of Genetics and Genomics , Boston Children\u2019s Hospital, Boston, MA 02115 , United States"},{"name":"Department of Pediatrics , Harvard Medical School, Boston, MA 02115 , United States"},{"name":"Department of Neurology , Harvard Medical School, Boston, MA 02115 , United States"},{"name":"Broad Institute of MIT and Harvard , Cambridge, MA 02142 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,7,18]]},"reference":[{"key":"2023080903373604100_ref1a","doi-asserted-by":"crossref","first-page":"826","DOI":"10.3171\/jns.1979.50.6.0826","article-title":"Familial intradural arachnoid cysts. Report of two cases","volume":"50","author":"Aarabi","year":"1979","journal-title":"J Neurosurg"},{"issue":"1","key":"2023080903373604100_ref1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1743-8454-7-6","article-title":"Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts","volume":"7","author":"Aarhus","year":"2010","journal-title":"Cerebrospinal Fluid Res"},{"issue":"5","key":"2023080903373604100_ref2","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1007\/s00701-020-04225-9","article-title":"Cognitive dysfunction and subjective symptoms in patients with arachnoid cyst before and after surgery","volume":"162","author":"Agopian-Dahlenmark","year":"2020","journal-title":"Acta Neurochir"},{"key":"2023080903373604100_ref3a","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.braindev.2003.11.011","article-title":"Aicardi syndrome","volume":"27","author":"Aicardi","year":"2005","journal-title":"Brain and Development"},{"key":"2023080903373604100_ref3b","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/0090-3019(95)80034-E","article-title":"Intracranial cavernous malformations and skin angiomas associated with middle fossa arachnoid cyst: a report of three cases.","volume":"43","year":"1995","journal-title":"Surg Neurol"},{"issue":"1","key":"2023080903373604100_ref3","doi-asserted-by":"crossref","first-page":"e13","DOI":"10.1542\/peds.110.1.e13","article-title":"Familial arachnoid cysts in association with autosomal dominant polycystic kidney disease","volume":"110","author":"Alehan","year":"2002","journal-title":"Pediatrics"},{"issue":"6","key":"2023080903373604100_ref4","doi-asserted-by":"crossref","first-page":"578","DOI":"10.3171\/2010.2.PEDS09464","article-title":"Prevalence and natural history of arachnoid cysts in children","volume":"5","author":"al-Holou","year":"2010","journal-title":"J Neurosurg Pediatr"},{"issue":"2","key":"2023080903373604100_ref5","doi-asserted-by":"crossref","first-page":"222","DOI":"10.3171\/2012.10.JNS12548","article-title":"Prevalence and natural history of arachnoid cysts in adults","volume":"118","author":"al-Holou","year":"2013","journal-title":"J Neurosurg"},{"issue":"7466","key":"2023080903373604100_ref6","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/nature12439","article-title":"De novo mutations in epileptic encephalopathies","volume":"501","author":"Allen","year":"2013","journal-title":"Nature"},{"issue":"2","key":"2023080903373604100_ref7","doi-asserted-by":"crossref","first-page":"168","DOI":"10.3171\/2021.8.PEDS21368","article-title":"Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus","volume":"29","author":"Allington","year":"2022","journal-title":"J Neurosurg Pediatr"},{"issue":"1","key":"2023080903373604100_ref8","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1749-8104-6-23","article-title":"En1 and Wnt signaling in midbrain dopaminergic neuronal development","volume":"6","author":"Alves dos Santos","year":"2011","journal-title":"Neural Dev"},{"issue":"2","key":"2023080903373604100_ref9","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/s00439-007-0456-6","article-title":"The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex","volume":"123","author":"Aranda-Orgill\u00e9s","year":"2008","journal-title":"Hum Genet"},{"key":"2023080903373604100_ref10a","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.pediatrneurol.2005.02.008","article-title":"Familial arachnoid cysts","volume":"33","author":"Arriola","year":"2005","journal-title":"Pediatr Neurol"},{"issue":"2","key":"2023080903373604100_ref10","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1046\/j.1440-1819.2002.00945.x","article-title":"A case of brief psychosis associated with an arachnoid cyst","volume":"56","author":"Bahk","year":"2002","journal-title":"Psychiatry Clin Neurosci"},{"issue":"6","key":"2023080903373604100_ref11","doi-asserted-by":"crossref","first-page":"979","DOI":"10.2214\/ajr.127.6.979","article-title":"Arachnoid cysts on computed tomography","volume":"127","author":"Banna","year":"1976","journal-title":"AJR Am J Roentgenol"},{"key":"2023080903373604100_ref11a","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1007\/s00701-012-1312-6","article-title":"Intracranial arachnoid cyst family with autosomal recessive trait mapped to chromosome 6q22.31-23.2","volume":"154","author":"Bayrakli","year":"2012","journal-title":"Acta Neurochir"},{"issue":"3","key":"2023080903373604100_ref12","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.pscychresns.2010.03.009","article-title":"Personality disorders improved after arachnoid cyst neurosurgery, then rediagnosed as 'minor' organic personality disorders","volume":"184","author":"Bechter","year":"2010","journal-title":"Psychiatry Res"},{"key":"2023080903373604100_ref13a","doi-asserted-by":"crossref","first-page":"495","DOI":"10.3171\/jns.1968.28.5.0495","article-title":"Congenital intraspinal extradural cyst. Report of three cases in one family","volume":"28","author":"Bergland","year":"1968","journal-title":"J Neurosurg"},{"issue":"1","key":"2023080903373604100_ref13","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/2045-8118-10-17","article-title":"Quantitative proteomics comparison of arachnoid cyst fluid and cerebrospinal fluid collected perioperatively from arachnoid cyst patients","volume":"10","author":"Berle","year":"2013","journal-title":"Fluids Barriers CNS"},{"issue":"5","key":"2023080903373604100_ref14","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1212\/01.wnl.0000233886.55203.bd","article-title":"MRI reveals structural abnormalities in patients with idiopathic generalized epilepsy","volume":"67","author":"Betting","year":"2006","journal-title":"Neurology"},{"key":"2023080903373604100_ref15a","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1002\/ajmg.a.33063","article-title":"The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15","volume":"149A","author":"Bilguvar","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"7312","key":"2023080903373604100_ref15","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilg\u00fcvar","year":"2010","journal-title":"Nature"},{"issue":"2","key":"2023080903373604100_ref16","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1177\/0883073820960314","article-title":"Chudley-McCullough syndrome: a recognizable clinical entity characterized by deafness and typical brain malformations","volume":"36","author":"Blauen","year":"2021","journal-title":"J Child Neurol"},{"key":"2023080903373604100_ref17a","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000021632","article-title":"Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report","volume":"99","author":"Bogli\u015f","year":"2020","journal-title":"Medicine (Baltimore)"},{"issue":"5","key":"2023080903373604100_ref17","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1017\/S1041610210000670","article-title":"Primary arachnoid cyst mimicking depressive symptoms in an elderly woman","volume":"22","author":"Boomkens","year":"2010","journal-title":"Int Psychogeriatr"},{"issue":"3","key":"2023080903373604100_ref18","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/ajmg.c.31648","article-title":"Less common manifestations in TSC","volume":"178","author":"Boronat","year":"2018","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"9","key":"2023080903373604100_ref19","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.braindev.2013.11.003","article-title":"Arachnoid cysts in tuberous sclerosis complex","volume":"36","author":"Boronat","year":"2014","journal-title":"Brain Dev"},{"issue":"D1","key":"2023080903373604100_ref20","doi-asserted-by":"crossref","first-page":"D1005","DOI":"10.1093\/nar\/gky1120","article-title":"The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019","volume":"47","author":"Buniello","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"2023080903373604100_ref21","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1038\/nrg.2016.27","article-title":"Developing and evaluating polygenic risk prediction models for stratified disease prevention","volume":"17","author":"Chatterjee","year":"2016","journal-title":"Nat Rev Genet"},{"key":"2023080903373604100_ref21a","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2214\/ajr.101.1.204","article-title":"Congenital spinal extradural cyst in two siblings","volume":"101","year":"1967","journal-title":"American Journal of Roentgenology"},{"key":"2023080903373604100_ref21c","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s00381-016-3285-x","article-title":"Neuropsychological improvement after posterior fossa arachnoid cyst drainage","volume":"33","year":"2017","journal-title":"Childs Nerv Syst"},{"key":"2023080903373604100_ref21b","first-page":"185","article-title":"A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?","volume":"23","author":"De\u011ferliyurt","year":"2012","journal-title":"Genet Couns"},{"issue":"505","key":"2023080903373604100_ref22","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aau2291","article-title":"The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer\u2019s disease risk","volume":"11","author":"Deming","year":"2019","journal-title":"Sci Transl Med"},{"issue":"1","key":"2023080903373604100_ref23","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1097\/YCT.0b013e3181729268","article-title":"Electroconvulsive therapy for depression in a patient with an intracranial arachnoid cyst","volume":"25","author":"Desseilles","year":"2009","journal-title":"J ECT"},{"issue":"20","key":"2023080903373604100_ref80","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"Ligt","year":"2012","journal-title":"N Engl J Med"},{"issue":"2","key":"2023080903373604100_ref24","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1001\/archneur.64.2.284","article-title":"Extradural arachnoid cyst with lumbosacral cord and root compression in Marfan syndrome","volume":"64","author":"Di Lazzaro","year":"2007","journal-title":"Arch Neurol"},{"issue":"7","key":"2023080903373604100_ref25","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.3390\/genes12071020","article-title":"Molecular genetics and complex inheritance of congenital heart disease","volume":"12","author":"Diab","year":"2021","journal-title":"Genes"},{"issue":"1","key":"2023080903373604100_ref26","doi-asserted-by":"crossref","first-page":"100383","DOI":"10.1016\/j.xpro.2021.100383","article-title":"Analysis workflow to assess de novo genetic variants from human whole-exome sequencing","volume":"2","author":"Diab","year":"2021","journal-title":"STAR Protocols"},{"issue":"6","key":"2023080903373604100_ref27","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1016\/j.ajhg.2012.04.008","article-title":"GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome","volume":"90","author":"Doherty","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2023080903373604100_ref28","first-page":"591","article-title":"Surgical management strategies of intracranial arachnoid cysts: a single institution experience of 75 cases","volume":"22","author":"Duz","year":"2012","journal-title":"Turk Neurosurg"},{"issue":"2","key":"2023080903373604100_ref29","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","article-title":"Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics","volume":"11","author":"Errico","year":"2002","journal-title":"Hum Mol Genet"},{"issue":"6","key":"2023080903373604100_ref30","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/j.surneu.2004.07.049","article-title":"Incidental findings in brain computed tomography scans of 3000 head trauma patients","volume":"63","author":"Eskandary","year":"2005","journal-title":"Surg Neurol"},{"issue":"6","key":"2023080903373604100_ref31","doi-asserted-by":"crossref","first-page":"711","DOI":"10.3171\/2018.5.SPINE1820","article-title":"Spinal arachnoid cysts in adults: diagnosis and management. A single-center experience","volume":"29","author":"Fam","year":"2018","journal-title":"J Neurosurg Spine"},{"issue":"6","key":"2023080903373604100_ref32","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1086\/316915","article-title":"Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome","volume":"67","author":"Fang","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"9182","key":"2023080903373604100_ref33","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/S0140-6736(98)12448-0","article-title":"Importance of dural ectasia in phenotypic assessment of Marfan's syndrome","volume":"354","author":"Fattori","year":"1999","journal-title":"Lancet"},{"key":"2023080903373604100_ref34a","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1002\/ajmg.1320590419","article-title":"Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome","volume":"59","author":"Ferlini","year":"1995","journal-title":"Am J Med Genet"},{"issue":"1","key":"2023080903373604100_ref34","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.a.30525","article-title":"Characterization of the symptoms associated with dural ectasia in the Marfan patient","volume":"134a","author":"Foran","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"12","key":"2023080903373604100_ref35","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1001\/jamaneurol.2017.3399","article-title":"Xp22.2 chromosomal duplication in familial intracranial arachnoid cyst","volume":"74","author":"Furey","year":"2017","journal-title":"JAMA Neurol"},{"issue":"2","key":"2023080903373604100_ref36","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.neuron.2018.06.019","article-title":"De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus","volume":"99","author":"Furey","year":"2018","journal-title":"Neuron"},{"issue":"5","key":"2023080903373604100_ref37","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/0090-3019(82)90315-9","article-title":"CT scan and metrizamide CT cisternography in arachnoid cysts of the middle cranial fossa: classification and pathophysiological aspects","volume":"17","author":"Galassi","year":"1981","journal-title":"Surg Neurol"},{"issue":"2","key":"2023080903373604100_ref38","doi-asserted-by":"crossref","first-page":"158","DOI":"10.3171\/2011.5.PEDS1152","article-title":"Endoscopy versus microsurgical cyst excision and shunting for treating intracranial arachnoid cysts","volume":"8","author":"Gangemi","year":"2011","journal-title":"J Neurosurg Pediatr"},{"issue":"2","key":"2023080903373604100_ref39","first-page":"131","article-title":"A case of arachnoid cyst presenting with cognitive impairment and hypomania symptoms","volume":"31","author":"Geni\u015f","year":"2020","journal-title":"Turk Psikiyatri Derg"},{"issue":"34","key":"2023080903373604100_ref40","doi-asserted-by":"crossref","first-page":"31871","DOI":"10.1074\/jbc.M104624200","article-title":"Amelogenin-deficient mice display an amelogenesis imperfecta phenotype","volume":"276","author":"Gibson","year":"2001","journal-title":"J Biol Chem"},{"issue":"1","key":"2023080903373604100_ref41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1866-1955-5-21","article-title":"Intracranial arachnoid cysts: impairment of higher cognitive functions and postoperative improvement","volume":"5","author":"Gjerde","year":"2013","journal-title":"J Neurodev Disord"},{"key":"2023080903373604100_ref42","doi-asserted-by":"crossref","first-page":"e645","DOI":"10.1016\/j.wneu.2019.08.058","article-title":"Anxiety and depression in patients with intracranial arachnoid cysts-a prospective study","volume":"132","author":"Gjerde","year":"2019","journal-title":"World Neurosurg"},{"issue":"4","key":"2023080903373604100_ref43","doi-asserted-by":"crossref","first-page":"803","DOI":"10.3171\/jns.1984.60.4.0803","article-title":"Arachnoid cysts of the Sylvian fissure - evidence of fluid secretion","volume":"60","author":"Go","year":"1984","journal-title":"J Neurosurg"},{"issue":"9","key":"2023080903373604100_ref44","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1002\/ajmg.a.37781","article-title":"A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair","volume":"170","author":"Gripp","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"3","key":"2023080903373604100_ref45","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1097\/YCT.0b013e31828b3546","article-title":"Use of electroconvulsive therapy in the presence of arachnoid cyst: a case report and review of existing literature","volume":"29","author":"Grover","year":"2013","journal-title":"J ECT"},{"issue":"7","key":"2023080903373604100_ref46","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/ajmg.a.31640","article-title":"Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts","volume":"143a","author":"Guzel","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2023080903373604100_ref47","doi-asserted-by":"crossref","first-page":"62","DOI":"10.3171\/2013.4.PEDS12609","article-title":"Arachnoid cyst slit valves: the mechanism for arachnoid cyst enlargement","volume":"12","author":"Halani","year":"2013","journal-title":"J Neurosurg Pediatr"},{"key":"2023080903373604100_ref48","doi-asserted-by":"crossref","first-page":"e1315","DOI":"10.1016\/j.wneu.2019.03.087","article-title":"Natural history of intracranial arachnoid cysts","volume":"126","author":"Hall","year":"2019","journal-title":"World Neurosurg"},{"issue":"2","key":"2023080903373604100_ref49","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0090-3019(81)90113-0","article-title":"Arachnoid cyst of the middle cranial fossa report of bilateral cysts in siblings","volume":"16","author":"Handa","year":"1981","journal-title":"Surg Neurol"},{"issue":"5","key":"2023080903373604100_ref50","first-page":"385","article-title":"A population-based study of intracranial arachnoid cysts: clinical and neuroimaging outcomes following surgical cyst decompression in children","volume":"105","author":"Helland","year":"2006","journal-title":"J Neurosurg"},{"issue":"6","key":"2023080903373604100_ref51","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1136\/jnnp.2006.101865","article-title":"Intracystic pressure in patients with temporal arachnoid cysts: a prospective study of preoperative complaints and postoperative outcome","volume":"78","author":"Helland","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"2023080903373604100_ref52","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000265060.93709.00","article-title":"Monozygotic twins with mirror image cysts: indication of a genetic mechanism in arachnoid cysts?","volume":"69","author":"Helland","year":"2007","journal-title":"Neurology"},{"issue":"2","key":"2023080903373604100_ref53","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.expneurol.2010.05.002","article-title":"Increased NKCC1 expression in arachnoid cysts supports secretory basis for cyst formation","volume":"224","author":"Helland","year":"2010","journal-title":"Exp Neurol"},{"issue":"4","key":"2023080903373604100_ref54","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/ng.2899","article-title":"A SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP","volume":"46","author":"Helsmoortel","year":"2014","journal-title":"Nat Genet"},{"key":"2023080903373604100_ref55a","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<183::AID-AJMG19>3.0.CO;2-U","article-title":"Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters","volume":"86","author":"Hendriks","year":"1999","journal-title":"Am J Med Genet"},{"issue":"3","key":"2023080903373604100_ref55","doi-asserted-by":"crossref","first-page":"271","DOI":"10.2169\/internalmedicine.44.271","article-title":"Sacral arachnoid cyst associated with Marfan syndrome","volume":"44","author":"Hoshino","year":"2005","journal-title":"Intern Med"},{"key":"2023080903373604100_ref56","first-page":"10","article-title":"Analysis on clinical characteristics of intracranial arachnoid cysts in 488 pediatric cases","volume":"8","author":"Huang","year":"2015","journal-title":"Int J Clin Exp Med"},{"key":"2023080903373604100_ref57a","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.pedneo.2018.01.009","article-title":"Schizencephaly in children: A single medical center retrospective study","volume":"59","author":"Hung","year":"2018","journal-title":"Pediatrics & Neonatology"},{"key":"2023080903373604100_ref57","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.wneu.2020.02.106","article-title":"Recurrent spinal intramedullary arachnoid cyst: case report and literature review","volume":"138","author":"Ichinose","year":"2020","journal-title":"World Neurosurg"},{"issue":"2","key":"2023080903373604100_ref58","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/emmm.201201739","article-title":"The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes","volume":"5","author":"Indrieri","year":"2013","journal-title":"EMBO Mol Med"},{"key":"2023080903373604100_ref59a","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0967-5868(02)00105-4","article-title":"Familial arachnoid cysts associated with oculopharyngeal muscular dystrophy","volume":"10","author":"Jadeja","year":"2003","journal-title":"J Clin Neurosci"},{"issue":"1","key":"2023080903373604100_ref59","doi-asserted-by":"crossref","first-page":"15","DOI":"10.4103\/sni.sni_320_18","article-title":"Intracranial arachnoid cysts: pediatric neurosurgery update","volume":"10","author":"Jafrani","year":"2019","journal-title":"Surg Neurol Int"},{"issue":"6","key":"2023080903373604100_ref60","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.3171\/jns.1995.82.6.1078","article-title":"Bilateral arachnoid cysts of the Sylvian region in female siblings with glutaric aciduria type I. report of two cases","volume":"82","author":"Jamjoom","year":"1995","journal-title":"J Neurosurg"},{"issue":"04","key":"2023080903373604100_ref61","doi-asserted-by":"crossref","first-page":"399","DOI":"10.5664\/jcsm.26863","article-title":"Coexistence of epileptic nocturnal wanderings and an arachnoid cyst","volume":"3","author":"Jim\u00e9nez-Genchi","year":"2007","journal-title":"J Clin Sleep Med"},{"issue":"11","key":"2023080903373604100_ref62","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat Genet"},{"issue":"11","key":"2023080903373604100_ref63","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1038\/s41591-020-1090-2","article-title":"Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus","volume":"26","author":"Jin","year":"2020","journal-title":"Nat Med"},{"issue":"10","key":"2023080903373604100_ref64","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1038\/s41588-020-0695-1","article-title":"Mutations disrupting neuritogenesis genes confer risk for cerebral palsy","volume":"52","author":"Jin","year":"2020","journal-title":"Nat Genet"},{"issue":"12","key":"2023080903373604100_ref65","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1007\/s00701-004-0359-4","article-title":"Surgical therapy of symptomatic arachnoid cysts - an outcome analysis","volume":"146","author":"Kandenwein","year":"2004","journal-title":"Acta Neurochir"},{"issue":"4","key":"2023080903373604100_ref66","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/s10038-019-0565-9","article-title":"WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts","volume":"64","author":"Kantaputra","year":"2019","journal-title":"J Hum Genet"},{"issue":"1","key":"2023080903373604100_ref67","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1001\/jama.282.1.36","article-title":"Incidental findings on brain magnetic resonance imaging from 1000 asymptomatic volunteers","volume":"282","author":"Katzman","year":"1999","journal-title":"JAMA"},{"issue":"9","key":"2023080903373604100_ref68","first-page":"e1707","article-title":"Arachnoid cyst and psychosis","volume":"9","author":"Khan","year":"2017","journal-title":"Cureus"},{"issue":"10","key":"2023080903373604100_ref69","first-page":"1674","article-title":"Incidental findings on pediatric MR images of the brain","volume":"23","author":"Kim","year":"2002","journal-title":"AJNR Am J Neuroradiol"},{"issue":"3","key":"2023080903373604100_ref70","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1055\/s-0036-1579785","article-title":"Chudley-McCullough syndrome: variable clinical picture in twins with a novel GPSM2 mutation","volume":"47","author":"Koenigstein","year":"2016","journal-title":"Neuropediatrics"},{"key":"2023080903373604100_ref71a","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1002\/ajmg.a.35933","article-title":"Clinical correlations of mutations affecting six components of the SWI\/SNF complex: detailed description of 21 patients and a review of the literature","volume":"161a","author":"Kosho","year":"2013","journal-title":"Am J Med Genet A"},{"issue":"2","key":"2023080903373604100_ref71","first-page":"433","article-title":"A case of schizophrenia-like psychosis in a patient with arachnoid cyst","volume":"32","author":"Krzyzowski","year":"1998","journal-title":"Neurol Neurochir Pol"},{"issue":"4","key":"2023080903373604100_ref72","first-page":"167","article-title":"Psychiatric presentation of an arachnoid cyst","volume":"42","author":"Kuhnley","year":"1981","journal-title":"J Clin Psychiatry"},{"issue":"8","key":"2023080903373604100_ref73","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1001\/jamaneurol.2021.1681","article-title":"DIAPH1 variants in non-east Asian patients with sporadic Moyamoya disease","volume":"78","author":"Kundishora","year":"2021","journal-title":"JAMA Neurol"},{"issue":"11","key":"2023080903373604100_ref74","doi-asserted-by":"crossref","first-page":"3325","DOI":"10.1007\/s00381-021-05230-8","article-title":"Genomics of human congenital hydrocephalus","volume":"37","author":"Kundishora","year":"2021","journal-title":"Childs Nerv Syst"},{"key":"2023080903373604100_ref75","first-page":"4515938","article-title":"Atypical features in a large Turkish family affected with Friedreich ataxia","volume":"2016","author":"Kurt","year":"2016","journal-title":"Case Rep Neurol Med"},{"issue":"04","key":"2023080903373604100_ref76","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1055\/s-0039-1698385","article-title":"Cognitive impairment in children with arachnoid cyst of Sylvian fissure: does it justify the neurosurgical treatment?","volume":"81","author":"Kwiatkowska","year":"2020","journal-title":"J Neurol Surg A Cent Eur Neurosurg"},{"issue":"6","key":"2023080903373604100_ref77","first-page":"1285","article-title":"The mucopolysaccharidoses: characterization by cranial MR imaging","volume":"14","author":"Lee","year":"1993","journal-title":"AJNR Am J Neuroradiol"},{"key":"2023080903373604100_ref78","doi-asserted-by":"crossref","first-page":"e530","DOI":"10.1016\/j.wneu.2018.10.095","article-title":"Psychopathological influence of middle fossa arachnoid cysts in young men: analysis of Korean conscription data","volume":"122","author":"Lee","year":"2019","journal-title":"World Neurosurg"},{"issue":"1","key":"2023080903373604100_ref79","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1146\/annurev-genom-083115-022413","article-title":"Advancements in next-generation sequencing","volume":"17","author":"Levy","year":"2016","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"5","key":"2023080903373604100_ref81","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1136\/adc.57.5.381","article-title":"Value of computerised tomography in children with non-specific mental subnormally","volume":"57","author":"Lingam","year":"1982","journal-title":"Arch Dis Child"},{"issue":"3","key":"2023080903373604100_ref82","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/BF00301092","article-title":"Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1","volume":"10","author":"Mart\u00ednez-Lage","year":"1994","journal-title":"Childs Nerv Syst"},{"issue":"1","key":"2023080903373604100_ref83","doi-asserted-by":"crossref","first-page":"14907","DOI":"10.1038\/ncomms14907","article-title":"Defective Gpsm2\/G\u03b1(i3) signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome","volume":"8","author":"Mauriac","year":"2017","journal-title":"Nat Commun"},{"key":"2023080903373604100_ref84","first-page":"CR464","article-title":"Presentation of intracranial arachnoid cysts in children- correlation between localization and clinical symptoms","volume":"8","author":"Mazurkiewicz-Be\u0142dzi\u0144ska","year":"2002","journal-title":"Med Sci Monit"},{"key":"2023080903373604100_ref85a","first-page":"341","article-title":"Symptomatic spinal extradural arachnoid cyst with cord compression in a family: case report","volume":"27","author":"Menezes","year":"2017","journal-title":"Journal of Neurosurgery: Spine SPI"},{"key":"2023080903373604100_ref85b","article-title":"NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes","volume":"179","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2023080903373604100_ref85","doi-asserted-by":"crossref","first-page":"204025","DOI":"10.1155\/2014\/204025","article-title":"Acute onset of psychosis in a patient with a left temporal lobe arachnoid cyst","volume":"2014","author":"Mironov","year":"2014","journal-title":"Case Rep Med"},{"issue":"6","key":"2023080903373604100_ref86","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1016\/j.neuron.2014.12.014","article-title":"Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors","volume":"84","author":"Mishra-Gorur","year":"2014","journal-title":"Neuron"},{"issue":"6","key":"2023080903373604100_ref87","first-page":"511","article-title":"Temporal lobe epilepsy associated with cystic lesion in the temporal lobe and middle cranial fossa","volume":"55","author":"Morioka","year":"2003","journal-title":"No To Shinkei"},{"issue":"4","key":"2023080903373604100_ref88","first-page":"e2458","article-title":"Management of arachnoid cysts: a comprehensive review","volume":"10","author":"Mustansir","year":"2018","journal-title":"Cureus"},{"issue":"4","key":"2023080903373604100_ref89","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1128\/JVI.06266-11","article-title":"Role of \u03b2-catenin and TCF\/LEF family members in transcriptional activity of HIV in astrocytes","volume":"86","author":"Narasipura","year":"2012","journal-title":"J Virol"},{"issue":"7397","key":"2023080903373604100_ref90","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/nature11011","article-title":"Patterns and rates of exonic de novo mutations in autism spectrum disorders","volume":"485","author":"Neale","year":"2012","journal-title":"Nature"},{"key":"2023080903373604100_ref91","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.clineuro.2017.05.014","article-title":"The association of arachnoid cysts and focal epilepsy: hospital based case control study","volume":"159","author":"Nikoli\u0107","year":"2017","journal-title":"Clin Neurol Neurosurg"},{"key":"2023080903373604100_ref91a","article-title":"Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst.","volume":"10","year":"2015","journal-title":"PLoS One"},{"key":"2023080903373604100_ref92b","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.jos.2018.01.010","article-title":"A screening method to distinguish syndromic from sporadic spinal extradural arachnoid cyst","volume":"23","author":"Ogura","year":"2018","journal-title":"J Orthop Sci"},{"key":"2023080903373604100_ref92a","doi-asserted-by":"crossref","first-page":"15032","DOI":"10.1038\/hgv.2015.32","article-title":"A novel FOXC2 mutation in spinal extradural arachnoid cyst","volume":"2","author":"Ogura","year":"2015","journal-title":"Hum Genome Var"},{"issue":"11","key":"2023080903373604100_ref92","doi-asserted-by":"crossref","first-page":"e80548","DOI":"10.1371\/journal.pone.0080548","article-title":"FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst","volume":"8","author":"Ogura","year":"2013","journal-title":"PLoS One"},{"key":"2023080903373604100_ref93","article-title":"Intracranial arachnoid cysts and epilepsy in children: should this be treated surgically? Our 29-year experience and review of the literature","author":"Orduna Mart\u00ednez","year":"2021","journal-title":"Neurocirugia"},{"issue":"10","key":"2023080903373604100_ref94","doi-asserted-by":"crossref","first-page":"1875","DOI":"10.1212\/01.WNL.0000125324.32082.D9","article-title":"A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts","volume":"62","author":"Orlacchio","year":"2004","journal-title":"Neurology"},{"issue":"9","key":"2023080903373604100_ref95","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1007\/s00381-009-0872-0","article-title":"Neurocognitive and psychological profiles in pediatric arachnoid cyst","volume":"25","author":"Park","year":"2009","journal-title":"Childs Nerv Syst"},{"issue":"5","key":"2023080903373604100_ref96","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/j.1469-8749.1998.tb15384.x","article-title":"MRI brain changes in subjects with down syndrome with and without dementia","volume":"40","author":"Pearlson","year":"1998","journal-title":"Dev Med Child Neurol"},{"issue":"6","key":"2023080903373604100_ref97","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1097\/00004728-199711000-00009","article-title":"Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases","volume":"21","author":"Petitti","year":"1997","journal-title":"J Comput Assist Tomogr"},{"issue":"5","key":"2023080903373604100_ref98","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1093\/neuros\/nyz244","article-title":"Dural ectasia in Neurofibromatosis 1: case series, management, and review","volume":"86","author":"Polster","year":"2020","journal-title":"Neurosurgery"},{"issue":"2","key":"2023080903373604100_ref99","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1007\/BF00247865","article-title":"Familial intracranial arachnoid cysts","volume":"7","author":"Pomeranz","year":"1991","journal-title":"Childs Nerv Syst"},{"issue":"2","key":"2023080903373604100_ref100","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3171\/foc.2007.22.2.7","article-title":"Arachnoid cysts: case series and review of the literature","volume":"22","author":"Pradilla","year":"2007","journal-title":"Neurosurg Focus"},{"issue":"6","key":"2023080903373604100_ref101","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/ng.826","article-title":"KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes","volume":"43","author":"Putoux","year":"2011","journal-title":"Nat Genet"},{"issue":"4","key":"2023080903373604100_ref102","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s00415-016-8035-1","article-title":"Prevalence and symptoms of intracranial arachnoid cysts: a population-based study","volume":"263","author":"Rabiei","year":"2016","journal-title":"J Neurol"},{"issue":"1","key":"2023080903373604100_ref103","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1212\/01.WNL.0000148724.61966.A4","article-title":"Arachnoid cysts cause cognitive deficits that improve after surgery","volume":"64","author":"Raeder","year":"2005","journal-title":"Neurology"},{"issue":"1","key":"2023080903373604100_ref104","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.eplepsyres.2007.05.006","article-title":"Clinical features of epilepsy in patients with cerebellar structural abnormalities in a referral center","volume":"76","author":"Recio","year":"2007","journal-title":"Epilepsy Res"},{"issue":"1","key":"2023080903373604100_ref105","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1097\/00005072-198101000-00007","article-title":"Ultrastructure and pathogenesis of intracranial arachnoid cysts","volume":"40","author":"Rengachary","year":"1981","journal-title":"J Neuropathol Exp Neurol"},{"issue":"2","key":"2023080903373604100_ref106","first-page":"139","article-title":"Pathogenesis of intracranial arachnoid cysts","volume":"9","author":"Rengachary","year":"1978","journal-title":"Surg Neurol"},{"issue":"8","key":"2023080903373604100_ref107","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41588-020-0652-z","article-title":"Genomic analyses implicate noncoding de novo variants in congenital heart disease","volume":"52","author":"Richter","year":"2020","journal-title":"Nat Genet"},{"issue":"11","key":"2023080903373604100_ref108","doi-asserted-by":"crossref","first-page":"3341","DOI":"10.1007\/s00381-021-05255-z","article-title":"Inflammatory hydrocephalus","volume":"37","author":"Robert","year":"2021","journal-title":"Childs Nerv Syst"},{"key":"2023080903373604100_ref109","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1159\/000391818","article-title":"Congenital cysts of the brain: arachnoid malformations","volume":"4","author":"Robinson","year":"1971","journal-title":"Prog Neurol Surg"},{"issue":"4","key":"2023080903373604100_ref110","doi-asserted-by":"crossref","first-page":"e482","DOI":"10.1212\/NXG.0000000000000482","article-title":"Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation","volume":"6","author":"Robson","year":"2020","journal-title":"Neurol Genetics"},{"issue":"4","key":"2023080903373604100_ref111","first-page":"279","article-title":"Intradural spinal arachnoid diverticula and cysts. 6 cases","volume":"29","author":"Rousseaux","year":"1983","journal-title":"Neurochirurgie"},{"issue":"8","key":"2023080903373604100_ref112","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1097\/GIM.0b013e3181e5c7ea","article-title":"Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome","volume":"12","author":"S\u00e1nchez-Carpintero","year":"2010","journal-title":"Genet Med"},{"issue":"5","key":"2023080903373604100_ref113","first-page":"427","article-title":"Chemical analysis of fluid obtained from intracranial arachnoid cysts in pediatric patients","volume":"103","author":"Sandberg","year":"2005","journal-title":"J Neurosurg"},{"issue":"3","key":"2023080903373604100_ref114","doi-asserted-by":"crossref","DOI":"10.3390\/jcm9030850","article-title":"Cognition in children with arachnoid cysts","volume":"9","author":"Sandvik","year":"2020","journal-title":"J Clin Med"},{"issue":"04","key":"2023080903373604100_ref115","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1055\/s-2008-1053473","article-title":"The natural history of arachnoid cysts: endoscopic and cine-mode MRI evidence of a slit-valve mechanism","volume":"38","author":"Santamarta","year":"1995","journal-title":"Minim Invasive Neurosurg"},{"issue":"2","key":"2023080903373604100_ref116","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1006\/geno.1997.5040","article-title":"Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects","volume":"46","author":"Schaefer","year":"1997","journal-title":"Genomics"},{"issue":"6","key":"2023080903373604100_ref117","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.3171\/jns.1995.83.6.1004","article-title":"Intracranial cysts in autosomal dominant polycystic kidney disease","volume":"83","author":"Schievink","year":"1995","journal-title":"J Neurosurg"},{"issue":"2","key":"2023080903373604100_ref118","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ajhg.2016.12.013","article-title":"A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay","volume":"100","author":"Schoch","year":"2017","journal-title":"Am J Hum Genet"},{"key":"2023080903373604100_ref118a","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.410070410","article-title":"Hereditary spinal arachnoid cysts, distichiasis, and lymphedema","volume":"7","year":"1980","journal-title":"Ann Neurol"},{"key":"2023080903373604100_ref118b","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s003300050176","article-title":"Coexistence of schizencephaly and middle cranial fossa arachnoid cyst: a report of two patients","volume":"7","year":"1997","journal-title":"Eur Radiol"},{"key":"2023080903373604100_ref118c","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s10048-015-0454-0","article-title":"Mutations in ARID2 are associated with intellectual disabilities","volume":"16","author":"Shang","year":"2015","journal-title":"Neurogenetics"},{"issue":"09","key":"2023080903373604100_ref119","doi-asserted-by":"crossref","DOI":"10.4314\/eamj.v83i09.46775","article-title":"Cervicothoracic arachnoid cyst in a patient with neurofibromatosis: case report","volume":"83","author":"Shehu","year":"2009","journal-title":"East Afr Med J"},{"issue":"2","key":"2023080903373604100_ref120","first-page":"64","article-title":"Arachnoid cyst causing depression and neuropsychiatric symptoms: a case report","volume":"28","author":"Shettar","year":"2018","journal-title":"East Asian Arch Psychiatr"},{"issue":"9","key":"2023080903373604100_ref121","doi-asserted-by":"crossref","first-page":"572","DOI":"10.5435\/00124635-200909000-00004","article-title":"Marfan syndrome","volume":"17","author":"Shirley","year":"2009","journal-title":"J Am Acad Orthop Surg"},{"issue":"1","key":"2023080903373604100_ref122","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1744-859X-6-16","article-title":"Arachnoid cyst in a patient with psychosis: case report","volume":"6","author":"Silva","year":"2007","journal-title":"Ann General Psychiatry"},{"key":"2023080903373604100_ref123a","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1007\/s00381-003-0808-z","article-title":"Familial posterior fossa arachnoid cyst","volume":"20","author":"Sinha","year":"2004","journal-title":"Childs Nerv Syst"},{"issue":"1","key":"2023080903373604100_ref123","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ajhg.2016.11.020","article-title":"De novo mutations in EBF3 cause a neurodevelopmental syndrome","volume":"100","author":"Sleven","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"8","key":"2023080903373604100_ref124","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1136\/jmg.2009.073049","article-title":"Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals","volume":"47","author":"Solomon","year":"2010","journal-title":"J Med Genet"},{"issue":"2","key":"2023080903373604100_ref125","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1038\/ncb2406","article-title":"Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation","volume":"14","author":"Stubbs","year":"2012","journal-title":"Nat Cell Biol"},{"key":"2023080903373604100_ref123b","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S0387-7604(02)00061-X","article-title":"Retrocerebellar arachnoid cysts in siblings with mental retardation and undescended testis","volume":"24","author":"Suzuki","year":"2002","journal-title":"Brain Dev"},{"issue":"181","key":"2023080903373604100_ref126a","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/ajmg.c.31755","article-title":"Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta","volume":"2019","author":"Takenouchi","year":"2019","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"44","key":"2023080903373604100_ref126","doi-asserted-by":"crossref","first-page":"e1749","DOI":"10.1097\/MD.0000000000001749","article-title":"Children with intracranial arachnoid cysts: classification and treatment","volume":"94","author":"Tan","year":"2015","journal-title":"Medicine (Baltimore)"},{"issue":"06","key":"2023080903373604100_ref127","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1055\/s-2008-1071361","article-title":"Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects","volume":"23","author":"Thyen","year":"1992","journal-title":"Neuropediatrics"},{"key":"2023080903373604100_ref128","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.20125","article-title":"Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles","volume":"5","author":"Timberlake","year":"2016","journal-title":"elife"},{"key":"2023080903373604100_ref129a","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1136\/jmg.34.12.1018","article-title":"Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son","volume":"34","author":"Tolmie","year":"1997","journal-title":"J Med Genet"},{"issue":"11","key":"2023080903373604100_ref129","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1007\/s00415-010-5634-0","article-title":"Reversible dyscognition in patients with a unilateral, middle fossa arachnoid cyst revealed by using a laptop based neuropsychological test battery (CANTAB)","volume":"257","author":"Torgersen","year":"2010","journal-title":"J Neurol"},{"issue":"18","key":"2023080903373604100_ref130","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1056\/NEJMoa070972","article-title":"Incidental findings on brain MRI in the general population","volume":"357","author":"Vernooij","year":"2007","journal-title":"N Engl J Med"},{"issue":"1","key":"2023080903373604100_ref131","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2017.06.005","article-title":"10 years of GWAS discovery: biology, function, and translation","volume":"101","author":"Visscher","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"5\u20136","key":"2023080903373604100_ref132","first-page":"251","article-title":"Neurofibromatosis in childhood: neuropsychological aspects","volume":"2","author":"Wadsby","year":"1989","journal-title":"Neurofibromatosis"},{"issue":"1","key":"2023080903373604100_ref133","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0090-3019(03)00149-6","article-title":"Intradural spinal arachnoid cysts in adults","volume":"60","author":"Wang","year":"2003","journal-title":"Surg Neurol"},{"issue":"50","key":"2023080903373604100_ref134","doi-asserted-by":"crossref","first-page":"e13665","DOI":"10.1097\/MD.0000000000013665","article-title":"Familial intracranial arachnoid cysts with a missense mutation (c.2576C\u200a&gt;\u200aT) in RERE","volume":"97","author":"Wang","year":"2018","journal-title":"Medicine (Baltimore)"},{"issue":"2","key":"2023080903373604100_ref135","doi-asserted-by":"crossref","DOI":"10.3390\/jpm12020175","article-title":"Computational genomics in the era of precision medicine: applications to variant analysis and gene therapy","volume":"12","author":"Wang","year":"2022","journal-title":"J Pers Med"},{"issue":"1\u20132","key":"2023080903373604100_ref136","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.jns.2005.09.008","article-title":"Incidental findings in magnetic resonance imaging of the brains of healthy young men","volume":"240","author":"Weber","year":"2006","journal-title":"J Neurol Sci"},{"issue":"4","key":"2023080903373604100_ref137","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1097\/00006123-199910000-00008","article-title":"Peculiarities of intracranial arachnoid cysts: location, sidedness, and sex distribution in 126 consecutive patients","volume":"45","author":"Wester","year":"1999","journal-title":"Neurosurgery"},{"key":"2023080903373604100_ref138","first-page":"714","article-title":"Arachnoid cysts in a brother and sister","volume":"10","author":"Wilson","year":"1987","journal-title":"J Med Genet"},{"issue":"1","key":"2023080903373604100_ref139","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/s12883-016-0554-y","article-title":"A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report","volume":"16","author":"Winczewska-Wiktor","year":"2016","journal-title":"BMC Neurol"},{"issue":"1","key":"2023080903373604100_ref140","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1186\/1471-2164-13-635","article-title":"Novel \u03b2-catenin target genes identified in thalamic neurons encode modulators of neuronal excitability","volume":"13","author":"Wisniewska","year":"2012","journal-title":"BMC Genomics"},{"issue":"5","key":"2023080903373604100_ref141","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1007\/BF00228581","article-title":"Surgical pathology of chronic epileptic seizure disorders: experience with 63 specimens from extratemporal corticectomies, lobectomies and functional hemispherectomies","volume":"86","author":"Wolf","year":"1993","journal-title":"Acta Neuropathol"},{"issue":"5","key":"2023080903373604100_ref142","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1227\/00006123-199305000-00020","article-title":"Arachnoid cyst of the lateral ventricle manifesting positional psychosis","volume":"32","author":"Wong","year":"1993","journal-title":"Neurosurgery"},{"issue":"10","key":"2023080903373604100_ref143","doi-asserted-by":"crossref","first-page":"e14780","DOI":"10.1097\/MD.0000000000014780","article-title":"Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst","volume":"98","author":"Xiong","year":"2019","journal-title":"Medicine (Baltimore)"},{"issue":"8","key":"2023080903373604100_ref144","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/ajmg.a.31669","article-title":"Spinal extradural arachnoid cysts associated with distichiasis and lymphedema","volume":"143a","author":"Yabuki","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2023080903373604100_ref145a","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1496","article-title":"A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome","volume":"8","author":"Yang","year":"2020","journal-title":"Mol Genet Genomic Med"},{"issue":"5","key":"2023080903373604100_ref145","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.neuropharm.2004.07.031","article-title":"Multiple functions for the cadherin\/catenin complex during neuronal development","volume":"47","author":"Yu","year":"2004","journal-title":"Neuropharmacology"},{"key":"2023080903373604100_ref145b","doi-asserted-by":"crossref","first-page":"560","DOI":"10.3892\/etm.2016.4007","article-title":"Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases","volume":"13","author":"Zhang","year":"2017","journal-title":"Exp Ther Med"},{"issue":"8","key":"2023080903373604100_ref146","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.braindev.2006.02.006","article-title":"Radiological findings in autistic and developmentally delayed children","volume":"28","author":"Zeegers","year":"2006","journal-title":"Brain Dev"}],"container-title":["Cerebral Cortex"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/cercor\/article-pdf\/33\/6\/3012\/51058732\/bhac257.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/cercor\/article-pdf\/33\/6\/3012\/51058732\/bhac257.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,24]],"date-time":"2023-11-24T18:37:37Z","timestamp":1700851057000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/cercor\/article\/33\/6\/3012\/6645819"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,18]]},"references-count":176,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,7,18]]},"published-print":{"date-parts":[[2023,3,10]]}},"URL":"https:\/\/doi.org\/10.1093\/cercor\/bhac257","relation":{},"ISSN":["1047-3211","1460-2199"],"issn-type":[{"value":"1047-3211","type":"print"},{"value":"1460-2199","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,3,15]]},"published":{"date-parts":[[2022,7,18]]}}}