{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:56:20Z","timestamp":1790834180480,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T00:00:00Z","timestamp":1553644800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010787","name":"Associazione Italiana Rett","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010787","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Israel Rett Syndrome Association"},{"name":"Catalan Rett Association"},{"name":"Association Fran\u00e7aise du Syndrome de Rett"},{"name":"Danish Rett Syndrome Association"},{"name":"ERARE EuroRETT Network"},{"DOI":"10.13039\/100001819","name":"IRSF","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Rett UK"},{"name":"Ricerca Corrente RETT-NGS 08C208 funds"},{"name":"IRCCS Istituto Auxologico Italiano"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Genomics"],"published-print":{"date-parts":[[2019,3,27]]},"abstract":"<jats:p>\n                    Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females.\n                    <jats:italic>MECP2<\/jats:italic>\n                    is the major causative gene. In addition,\n                    <jats:italic>CDKL5<\/jats:italic>\n                    and\n                    <jats:italic>FOXG1<\/jats:italic>\n                    mutations have been reported in Rett patients, especially with the atypical presentation. Each gene and different mutations within each gene contribute to variability in clinical presentation, and several groups worldwide performed genotype-phenotype correlation studies using cohorts of patients with classic and atypical forms of Rett spectrum disorder. The Rett Networked Database is a unified registry of clinical and molecular data of Rett patients, and it is currently one of the largest Rett registries worldwide with several hundred records provided by Rett expert clinicians from 13 countries. Collected data revealed that the majority of\n                    <jats:italic>MECP2<\/jats:italic>\n                    -mutated patients present with the classic form, the majority of\n                    <jats:italic>CDKL5<\/jats:italic>\n                    -mutated patients with the early-onset seizure variant, and the majority of\n                    <jats:italic>FOXG1<\/jats:italic>\n                    -mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the Rett Networked Database allows the grouping of patients presenting specific clinical and genetic characteristics for studies by the Rett community and beyond. These data will also serve for the development of clinical trials involving homogeneous groups of patients.\n                  <\/jats:p>","DOI":"10.1155\/2019\/6956934","type":"journal-article","created":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T19:39:31Z","timestamp":1553715571000},"page":"1-9","source":"Crossref","is-referenced-by-count":36,"title":["Analysis of the Phenotypes in the Rett Networked Database"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5634-031X","authenticated-orcid":true,"given":"Elisa","family":"Frullanti","sequence":"first","affiliation":[{"name":"Medical Genetics, University of Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7821-8198","authenticated-orcid":true,"given":"Filomena T.","family":"Papa","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Grillo","sequence":"additional","affiliation":[{"name":"Medical Genetics, University of Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angus","family":"Clarke","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruria","family":"Ben-Zeev","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit and Israeli Rett Clinic, Safra Children Hospital, Chaim Sheba Medical Center, Tel HaShomer, Israel"},{"name":"Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Pineda","sequence":"additional","affiliation":[{"name":"Neurologia Fundaci\u00f3 Sant Joan de Deu, Barcelona, 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