{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:38:20Z","timestamp":1791088700720,"version":"4.1.0"},"reference-count":117,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"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":["Seminars in Pediatric Neurology"],"published-print":{"date-parts":[[2007,9]]},"DOI":"10.1016\/j.spen.2007.07.002","type":"journal-article","created":{"date-parts":[[2007,11,27]],"date-time":"2007-11-27T20:45:00Z","timestamp":1196196300000},"page":"108-117","source":"Crossref","is-referenced-by-count":51,"title":["The Overlapping Spectrum of Rett and Angelman Syndromes: A Clinical Review"],"prefix":"10.1016","volume":"14","author":[{"given":"Kerry Baldwin","family":"Jedele","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.spen.2007.07.002_bib1","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1002\/mrdd.10025","article-title":"Genetic basis of Rett syndrome","volume":"8","author":"Van den Veyver","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1016\/j.spen.2007.07.002_bib2","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.jpeds.2005.10.037","article-title":"Rett syndrome in Australia: A review of the epidemiology","volume":"148","author":"Laurvick","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2007.07.002_bib3","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/S0387-7604(85)80028-0","article-title":"Rett syndrome: Swedish approach to analysis of prevalence and cause","volume":"7","author":"Hagberg","year":"1985","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib4","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1053\/ejpn.2002.0612","article-title":"An update on clinically applicable diagnostic criteria in Rett syndrome","volume":"6","author":"Hagberg","year":"2002","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib5","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/mrdd.10020","article-title":"Clinical manifestations and stages of Rett syndrome","volume":"8","author":"Hagberg","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1016\/j.spen.2007.07.002_bib6","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1203\/01.PDR.0000155945.94249.0A","article-title":"Is the early development of girls with Rett disorder really normal","volume":"57","author":"Einspieler","year":"2005","journal-title":"Pediatr Res"},{"issue":"suppl 1","key":"10.1016\/j.spen.2007.07.002_bib7","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.1016\/j.braindev.2005.03.017","article-title":"Early behavior characteristics and sleep disturbance in Rett syndrome","volume":"27","author":"Nomura","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib8","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1177\/08830738050200082701","article-title":"Natural history of Rett syndrome","volume":"20","author":"Nomura","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib9","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.1651-2227.2000.tb01216.x","article-title":"Head growth in Rett syndrome","volume":"89","author":"Hagberg","year":"2000","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.spen.2007.07.002_bib10","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1651-2227.2001.tb00252.x","article-title":"Epilepsy in a representative series of Rett syndrome","volume":"90","author":"Steffenburg","year":"2001","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.spen.2007.07.002_bib11","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1177\/08830738050200090501","article-title":"MECP2 abnormality phenotypes: Clinicopathologic area with broad variability","volume":"20","author":"Erlandson","year":"2005","journal-title":"J Child Neurol"},{"issue":"suppl 1","key":"10.1016\/j.spen.2007.07.002_bib12","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1016\/j.braindev.2005.03.015","article-title":"Rett syndrome from a family perspective: The Swedish Rett Center survey","volume":"27","author":"Larsson","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib13","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0387-7604(87)80069-4","article-title":"Rett syndrome: A retrospective pilot study on potential early predictive symptomatology","volume":"9","author":"Witt-Engerstrom","year":"1987","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib14","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1177\/08830738050200081901","article-title":"Rett syndrome: Long-term clinical follow-up experiences over four decades","volume":"20","author":"Hagberg","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib15","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1177\/08830738050200090301","article-title":"Rett syndrome: Model of neurodevelopmental disorders","volume":"20","author":"Percy","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib16","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1080\/09638280600554868","article-title":"Communication and eating proficiency in 125 females with Rett syndrome: The Swedish Rett center survey","volume":"28","author":"Lavas","year":"2006","journal-title":"Disabil Rehabil"},{"key":"10.1016\/j.spen.2007.07.002_bib17","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1177\/08830738050200081701","article-title":"Rett syndrome: Pathogenesis, diagnosis, strategies, therapies, and future research directions","volume":"20","author":"Deidrick","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib18","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1203\/01.pdr.0000238302.84552.d0","article-title":"Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome","volume":"60","author":"Weese-Mayer","year":"2006","journal-title":"Pediatr Res"},{"key":"10.1016\/j.spen.2007.07.002_bib19","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1177\/088307380401900804","article-title":"Effect of topiramate on seizures and respiratory dysrhythmia in Rett syndrome","volume":"19","author":"Goyal","year":"2004","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib20","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.braindev.2006.04.010","article-title":"Management of a severe forceful breather with Rett syndrome using carbogen","volume":"28","author":"Smeets","year":"2006","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib21","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1002\/ana.410350415","article-title":"Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone","volume":"35","author":"Percy","year":"1994","journal-title":"Ann Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib22","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/adc.85.1.29","article-title":"Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder","volume":"85","author":"Julu","year":"2001","journal-title":"Arch Dis Child"},{"issue":"suppl 1","key":"10.1016\/j.spen.2007.07.002_bib23","first-page":"71","article-title":"Rett syndrome: Analysis of deaths in the British survey","volume":"6","author":"Kerr","year":"1997","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"10.1016\/j.spen.2007.07.002_bib24","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1007\/s00246-005-0784-z","article-title":"Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: Prevention of sudden death?","volume":"26","author":"Guideri","year":"2005","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.spen.2007.07.002_bib25","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1097\/00005176-199907000-00010","article-title":"Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome","volume":"29","author":"Motil","year":"1999","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.spen.2007.07.002_bib26","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/S0022-3476(98)70436-6","article-title":"Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome","volume":"132","author":"Motil","year":"1998","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2007.07.002_bib27","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/S0387-7604(12)80213-0","article-title":"Aberrant sleep patterns in children with the Rett syndrome","volume":"12","author":"Piazza","year":"1990","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib28","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/S0387-7604(12)80055-6","article-title":"Behavioral treatment of sleep dysfunction in patients with the Rett syndrome","volume":"13","author":"Piazza","year":"1991","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib29","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1469-8749.1998.tb15445.x","article-title":"Sleep dysfunction in Rett syndrome: A trial of exogenous melatonin treatment","volume":"40","author":"McArthur","year":"1998","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib30","doi-asserted-by":"crossref","first-page":"S85","DOI":"10.1016\/S0387-7604(01)00346-1","article-title":"Medium-term open label trial of L-carnitine in Rett syndrome","volume":"23 Suppl 1","author":"Ellaway","year":"2001","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib31","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1177\/08830738060210100101","article-title":"Deep sedation with propofol in patients with Rett syndrome","volume":"21","author":"Tofil","year":"2006","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib32","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.jpeds.2006.06.015","article-title":"Predictors of seizure onset in Rett syndrome","volume":"149","author":"Jian","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.spen.2007.07.002_bib33","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0013-4694(97)00084-9","article-title":"Rett syndrome: Characterization of seizures versus non-seizures","volume":"106","author":"Glaze","year":"1998","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"10.1016\/j.spen.2007.07.002_bib34","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.neucli.2003.08.003","article-title":"Rett syndrome: A case presenting with atypical seizures","volume":"34","author":"Pardal-Fernandez","year":"2004","journal-title":"Neurophysiol Clin"},{"key":"10.1016\/j.spen.2007.07.002_bib35","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/mrdd.10024","article-title":"Neurophysiology of Rett syndrome","volume":"8","author":"Glaze","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1016\/j.spen.2007.07.002_bib36","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1177\/08830738050200082401","article-title":"Neuropathology of Rett syndrome","volume":"20","author":"Armstrong","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib37","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.ejpn.2006.09.003","article-title":"Treatment of epilepsy in Rett syndrome","volume":"11","author":"Huppke","year":"2007","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib38","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1055\/s-2004-822634","article-title":"Optimizing epilepsy therapy in children and adolescents with lamotrigine","volume":"217","author":"Siemes","year":"2005","journal-title":"Klin Padiatr"},{"key":"10.1016\/j.spen.2007.07.002_bib39","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0387-7604(01)00191-7","article-title":"Lamotrigine in two cases of Rett syndrome","volume":"23","author":"Kumandas","year":"2001","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib40","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s007870050045","article-title":"Lamotrigine in Rett syndrome: Treatment experience from a pilot study","volume":"7","author":"Stenbom","year":"1998","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"10.1016\/j.spen.2007.07.002_bib41","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1212\/01.WNL.0000078939.64774.1B","article-title":"Reduced folate transport to the CNS in female Rett patients","volume":"61","author":"Ramaekers","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2007.07.002_bib42","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1212\/01.WNL.0000166032.58239.6C","article-title":"Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome","volume":"64","author":"Neul","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2007.07.002_bib43","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1007\/s00381-005-1155-z","article-title":"Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome","volume":"22","author":"Giampietro","year":"2006","journal-title":"Childs Nerv Syst"},{"key":"10.1016\/j.spen.2007.07.002_bib44","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1177\/08830738030180011801","article-title":"Ketogenic diet in Rett syndrome","volume":"18","author":"Liebhaber","year":"2003","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib45","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1017\/S0012162206001435","article-title":"Vagus nerve stimulation for treatment of epilepsy in Rett syndrome","volume":"48","author":"Wilfong","year":"2006","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib46","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.pediatrneurol.2004.12.012","article-title":"Another patient with MECP2 mutation without classic Rett syndrome phenotype","volume":"32","author":"Milani","year":"2005","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib47","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.38.4.224","article-title":"Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein","volume":"38","author":"Watson","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib48","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ajmg.10633","article-title":"Infantile hypotonia as a presentation of Rett syndrome","volume":"111","author":"Heilstedt","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib49","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/S0387-7604(03)00018-4","article-title":"The spectrum of phenotypes in females with Rett syndrome","volume":"25","author":"Huppke","year":"2003","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib50","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0887-8994(02)00624-0","article-title":"Identification of MeCP2 mutations in a series of females with autistic disorder","volume":"28","author":"Carney","year":"2003","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib51","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/mrdd.10026","article-title":"Associations between MeCP2 mutations","volume":"8","author":"Hoffbuhr","year":"2002","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1016\/j.spen.2007.07.002_bib52","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1136\/jmg.2006.042077","article-title":"Very mild cases of Rett syndrome with skewed X inactivation","volume":"43","author":"Huppke","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib53","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg.2007.049452","article-title":"MECP2 mutations in males","volume":"44","author":"Villard","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib54","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1097\/01.gim.0000250502.28516.3c","article-title":"Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males","volume":"8","author":"del Gaudio","year":"2006","journal-title":"Genet Med"},{"key":"10.1016\/j.spen.2007.07.002_bib55","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1086\/426462","article-title":"Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation","volume":"75","author":"Weaving","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib56","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1007\/s10038-006-0079-0","article-title":"MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome","volume":"52","author":"Li","year":"2007","journal-title":"J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib57","doi-asserted-by":"crossref","first-page":"1935","DOI":"10.1093\/hmg\/ddi198","article-title":"CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome","volume":"14","author":"Mari","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib58","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1038\/sj.ejhg.5201451","article-title":"Early onset seizures and Rett-like features associated with mutations in CDKL5","volume":"13","author":"Evans","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib59","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1136\/jmg.2006.041467","article-title":"CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients","volume":"43","author":"Archer","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib60","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1038\/sj.ejhg.5201429","article-title":"Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome","volume":"13","author":"Borg","year":"2005","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib61","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.a.31133","article-title":"NTNG1 mutations are a rare cause of Rett syndrome","volume":"140","author":"Archer","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.002_bib62","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1086\/515525","article-title":"A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map","volume":"61","author":"Schanen","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib63","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1086\/320109","article-title":"MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin","volume":"68","author":"Trappe","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib64","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1177\/088307380201700105","article-title":"Rett syndrome: Clinical manifestations in males with MECP2 mutations","volume":"17","author":"Zeev","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib65","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/j.1399-0004.2005.00397.x","article-title":"Germline mosaicism in Rett syndrome identified by prenatal diagnosis","volume":"67","author":"Mari","year":"2005","journal-title":"Clin Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib66","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1111\/j.1399-0004.2006.00691.x","article-title":"Germline mosaicism for a MECP2 mutation in a man with two Rett daughters","volume":"70","author":"Evans","year":"2006","journal-title":"Clin Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib67","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1212\/WNL.55.8.1188","article-title":"Two affected boys in a Rett syndrome family: Clinical and molecular findings","volume":"55","author":"Villard","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2007.07.002_bib68","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1093\/hmg\/9.9.1377","article-title":"MECP2 mutations account for most cases of typical forms of Rett syndrome","volume":"9","author":"Bienvenu","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib69","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/humu.20004","article-title":"Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome","volume":"23","author":"Laccone","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1016\/j.spen.2007.07.002_bib70","unstructured":"GeneReviews: MECP2-Related Disorders. Available at: http:\/\/www.genetests.org\/servlet\/access?db=geneclinics&site=gt&id=8888891&key=Huc8KUbFYXpYV&gry=&fcn=y&fw=cSFS&filename=\/profiles\/rett\/index.html. Accessed April 13, 2007"},{"key":"10.1016\/j.spen.2007.07.002_bib71","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.1320590331","article-title":"On the prevalence of Angelman syndrome","volume":"59","author":"Kyllerman","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib72","doi-asserted-by":"crossref","first-page":"647","DOI":"10.2165\/00148581-200305100-00001","article-title":"Angelman syndrome: Etiology, clinical features, diagnosis, and management of symptoms","volume":"5","author":"Guerrini","year":"2003","journal-title":"Paediatr Drugs"},{"key":"10.1016\/j.spen.2007.07.002_bib73","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.a.31074","article-title":"Angelman syndrome 2005: Updated consensus for diagnostic criteria","volume":"140","author":"Williams","year":"2006","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.002_bib74","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1136\/jmg.38.12.834","article-title":"Distinct phenotypes distinguish the molecular classes of Angelman syndrome","volume":"38","author":"Lossie","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib75","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1177\/088307389200700307","article-title":"Angelman syndrome: Clinical profile","volume":"7","author":"Zori","year":"1992","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib76","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1080\/09638280500190631","article-title":"A long-term population-based clinical and morbidity profile of Angelman syndrome in western Australia: 1953-2003","volume":"28","author":"Thomson","year":"2006","journal-title":"Disabil Rehabil"},{"key":"10.1016\/j.spen.2007.07.002_bib77","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1080\/140154301300109044","article-title":"Levels of cognitive and linguistic development in Angelman syndrome: A study of 20 children","volume":"26","author":"Andersen","year":"2001","journal-title":"Logoped Phoniatr Vocol"},{"key":"10.1016\/j.spen.2007.07.002_bib78","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/jmg.40.2.87","article-title":"Angelman syndrome: A review of the clinical and genetic aspects","volume":"40","author":"Clayton-Smith","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib79","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.a.30154","article-title":"Behavioral aspects of Angelman syndrome: A case control study","volume":"132","author":"Barry","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.002_bib80","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1111\/j.1399-0004.2004.00362.x","article-title":"Autism in Angelman syndrome: Implications for autism research","volume":"66","author":"Peters","year":"2004","journal-title":"Clin Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib81","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/ana.410400109","article-title":"Cortical myoclonus in Angelman syndrome","volume":"40","author":"Guerrini","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib82","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1017\/S0012162201000871","article-title":"Angelman syndrome: Evolution of the phenotype in adolescents and adults","volume":"43","author":"Smith","year":"2001","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib83","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1038\/sj.ejhg.5201264","article-title":"Phenotypic variability in Angelman syndrome: Comparison among different deletion classes and between deletion and UPD subjects","volume":"12","author":"Varela","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib84","first-page":"2685","article-title":"Sleep breathing and periodic leg movement pattern in Angelman syndrome: A polysomnographic study","volume":"116","author":"Miano","year":"2005","journal-title":"Clin Neurophysiol"},{"key":"10.1016\/j.spen.2007.07.002_bib85","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1352\/0895-8017(2004)109<275:SPIIWS>2.0.CO;2","article-title":"Sleep problems in individuals with Angelman syndrome","volume":"109","author":"Didden","year":"2004","journal-title":"Am J Ment Retard"},{"key":"10.1016\/j.spen.2007.07.002_bib86","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1515\/JPEM.1999.12.1.57","article-title":"Effects of a low dose of melatonin on sleep in children with Angelman syndrome","volume":"12","author":"Zhdanova","year":"1999","journal-title":"J Pediatr Endocrinol Metab"},{"key":"10.1016\/j.spen.2007.07.002_bib87","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1046\/j.1460-9592.2003.01188.x","article-title":"Angelman syndrome as a rare anaesthetic problem","volume":"14","author":"Bujok","year":"2004","journal-title":"Paediatr Anaesth"},{"key":"10.1016\/j.spen.2007.07.002_bib88","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<356::AID-AJMG21>3.0.CO;2-K","article-title":"Angelman syndrome in adulthood","volume":"66","author":"Laan","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib89","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1097\/00125817-199909000-00004","article-title":"Transmission of Angelman syndrome by an affected mother","volume":"1","author":"Lossie","year":"1999","journal-title":"Genet Med"},{"key":"10.1016\/j.spen.2007.07.002_bib90","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.a.20217","article-title":"Retinochoroidal atrophy in two adult patients with Angelman syndrome","volume":"122","author":"Rufa","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.002_bib91","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1528-1157.1997.tb01097.x","article-title":"Evolution of epilepsy and EEG findings in Angelman syndrome","volume":"38","author":"Laan","year":"1997","journal-title":"Epilepsia"},{"key":"10.1016\/j.spen.2007.07.002_bib92","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1001\/archneur.63.1.122","article-title":"Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13","volume":"63","author":"Valente","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib93","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.braindev.2003.09.013","article-title":"Angelman syndrome: Is there a characteristic EEG","volume":"27","author":"Laan","year":"2005","journal-title":"Brain Dev"},{"key":"10.1016\/j.spen.2007.07.002_bib94","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1046\/j.1528-1157.2003.66502.x","article-title":"Angelman syndrome: Difficulties in EEG pattern recognition and possible misinterpretations","volume":"44","author":"Valente","year":"2003","journal-title":"Epilepsia"},{"key":"10.1016\/j.spen.2007.07.002_bib95","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1684\/j.1950-6945.2005.tb00095.x","article-title":"Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome","volume":"7","author":"Galvan-Manso","year":"2005","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.spen.2007.07.002_bib96","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1212\/WNL.54.5.1185","article-title":"Topiramate therapy of epilepsy associated with Angelman\u2019s syndrome","volume":"54","author":"Franz","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2007.07.002_bib97","doi-asserted-by":"crossref","first-page":"2583","DOI":"10.1093\/ajhp\/60.24.2583","article-title":"Assessment of anticonvulsant effectiveness and safety in patients with Angelman\u2019s syndrome using an internet questionnaire","volume":"60","author":"Nolt","year":"2003","journal-title":"Am J Health Syst Pharm"},{"key":"10.1016\/j.spen.2007.07.002_bib98","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1017\/S0012162201001293","article-title":"Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: The Danish experience","volume":"43","author":"Ostergaard","year":"2001","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib99","first-page":"648","article-title":"X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome","volume":"44","author":"Jiang","year":"2006","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.spen.2007.07.002_bib100","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/ajmg.a.20723","article-title":"Discordant phenotypes in first cousins with UBE3A frameshift mutation","volume":"127","author":"Molfetta","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.spen.2007.07.002_bib101","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/s004390050727","article-title":"UBE3A \u201cmutations\u201d in two unrelated and phenotypically different Angelman syndrome patients","volume":"102","author":"Fung","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib102","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1590\/S0004-282X2002000600024","article-title":"A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect","volume":"60","author":"De Molfetta","year":"2002","journal-title":"Arq Neuropsiquiatr"},{"key":"10.1016\/j.spen.2007.07.002_bib103","unstructured":"GeneReviews: Angelman Syndrome. Available at: http:\/\/www.genetests.org\/servlet\/access?db=geneclinics&site=gt&id=8888891&key=Huc8KUbFYXpYV&gry=&fcn=y&fw=Bd2j&filename=\/profiles\/angelman\/index.html. Accessed April 13, 2007"},{"key":"10.1016\/j.spen.2007.07.002_bib104","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1136\/jmg.2004.026930","article-title":"Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples","volume":"42","author":"Ludwig","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib105","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/sj.ejhg.5201080","article-title":"MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics","volume":"12","author":"Kleefstra","year":"2004","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib106","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0074-7742(05)71006-0","article-title":"Rett syndrome: A Rosetta Stone for understanding the molecular pathogenesis of autism","volume":"71","author":"LaSalle","year":"2005","journal-title":"Int Rev Neurobiol"},{"key":"10.1016\/j.spen.2007.07.002_bib107","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1093\/hmg\/ddh063","article-title":"Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders","volume":"13","author":"Samaco","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib108","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1093\/hmg\/ddi045","article-title":"Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3","volume":"14","author":"Samaco","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.spen.2007.07.002_bib109","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1126\/science.1086446","article-title":"Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2","volume":"302","author":"Chen","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.spen.2007.07.002_bib110","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1212\/WNL.41.3.416","article-title":"Puppet-like syndrome of Angelman: A pathologic and neurochemical study","volume":"41","author":"Jay","year":"1991","journal-title":"Neurology"},{"key":"10.1016\/j.spen.2007.07.002_bib111","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1073\/pnas.0610593104","article-title":"Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2","volume":"104","author":"Giacometti","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.spen.2007.07.002_bib112","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1126\/science.1138389","article-title":"Reversal of neurological defects in a mouse model of Rett syndrome","volume":"315","author":"Guy","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.spen.2007.07.002_bib113","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1177\/08830738050200091001","article-title":"Dissecting MECP2 function in the central nervous system","volume":"20","author":"Kishi","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib114","doi-asserted-by":"crossref","first-page":"41208","DOI":"10.1074\/jbc.M401302200","article-title":"Biochemical analysis of Angelman syndrome-associated mutations in the E3 ubiquitin ligase E6-associated protein","volume":"279","author":"Cooper","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.spen.2007.07.002_bib115","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1177\/08830738050200082301","article-title":"Neurophysiology of Rett syndrome","volume":"20","author":"Glaze","year":"2005","journal-title":"J Child Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib116","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.pediatrneurol.2006.10.003","article-title":"Rett syndrome: Clinical and electrophysiologic aspects","volume":"36","author":"Moser","year":"2007","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.spen.2007.07.002_bib117","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/ajmg.1320460105","article-title":"Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals","volume":"46","author":"Clayton-Smith","year":"1993","journal-title":"Am J Med Genet"}],"container-title":["Seminars in Pediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909107000484?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909107000484?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T23:58:52Z","timestamp":1737590332000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909107000484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9]]},"references-count":117,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S1071909107000484"],"URL":"https:\/\/doi.org\/10.1016\/j.spen.2007.07.002","relation":{},"ISSN":["1071-9091"],"issn-type":[{"value":"1071-9091","type":"print"}],"subject":[],"published":{"date-parts":[[2007,9]]}}}