{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:37Z","timestamp":1761101857292},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2009,5,19]],"date-time":"2009-05-19T00:00:00Z","timestamp":1242691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2010,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 2\u2010year\u2010old girl with early onset seizures variant of Rett syndrome with a deletion at Xp22 detected by multiplex ligation\u2010dependent probe amplification (MLPA) technique. This patient presented with tonic seizures at 7 days of life. Subsequently, she developed infantile spasms at three months and finally refractory myoclonic epilepsy. She demonstrated severe encephalopathy with hypotonia, deceleration of head growth, with eye gaze but limited eye pursuit, no language, limited hand use, and intermittent hand stereotypies. This combination of clinical features, suggestive of early onset variant of Rett syndrome led us to screen the <jats:italic>CDKL5<\/jats:italic> gene. In a first step, screening of the whole coding sequence of the <jats:italic>CDKL5<\/jats:italic> gene revealed no point mutations. In a second step, we searched gross rearrangements by MLPA and identified a microdeletion affecting both the promoter and exon 1 in <jats:italic>CDKL5<\/jats:italic>. Subsequent analysis on a Nimblegen HD2 microarray confirmed a deletion of approximately 300 kb at Xp22, including the <jats:italic>BEND2<\/jats:italic>, <jats:italic>SCML2<\/jats:italic>, and <jats:italic>CDKL5<\/jats:italic> genes. In conclusion, our report suggests that searching for large rearrangements in <jats:italic>CDKL5<\/jats:italic> should be considered in girls with early onset seizures and Rett\u2010like features. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30974","type":"journal-article","created":{"date-parts":[[2009,5,19]],"date-time":"2009-05-19T16:04:09Z","timestamp":1242749049000},"page":"202-207","source":"Crossref","is-referenced-by-count":21,"title":["Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the <i>CDKL5<\/i> gene"],"prefix":"10.1002","volume":"153B","author":[{"given":"Nadia","family":"Bahi\u2010Buisson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benoit","family":"Girard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes","family":"Gautier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yann","family":"Fichou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoann","family":"Saillour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karine","family":"Poirier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,12,21]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlate with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.041467"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01520.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn197"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2005.09.008"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000326592.37105.88"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201270"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000326592.37105.88"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(85)80037-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","first-page":"9319","DOI":"10.1016\/S0021-9258(19)38851-9","article-title":"Alpha\u2010galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu\u2010rich gene","volume":"265","author":"Kornreich R","year":"1990","journal-title":"J Biol Chem"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00194629"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053504"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20829"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026237"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/426460"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5224"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31572"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/426462"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.30974","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30974","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:17:12Z","timestamp":1697671032000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12,21]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["10.1002\/ajmg.b.30974"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30974","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,12,21]]}}}