{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T03:06:35Z","timestamp":1694055995448},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T00:00:00Z","timestamp":1344211200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Mutations in the cyclin-dependent kinase-like 5 gene (<jats:italic>CDKL5<\/jats:italic>) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We performed mutation screening of <jats:italic>CDKL5<\/jats:italic> in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (<jats:italic>MECP2<\/jats:italic>) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the <jats:italic>CDKL5<\/jats:italic> gene and their neighbouring sequences were examined, and <jats:italic>CDKL5<\/jats:italic> rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Six previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>This study demonstrated the importance of <jats:italic>CDKL5<\/jats:italic> mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the <jats:italic>CDKL5<\/jats:italic> gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5\u2009months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-13-68","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T10:14:44Z","timestamp":1344248084000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain"],"prefix":"10.1186","volume":"13","author":[{"given":"Hiart","family":"Maortua","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Mart\u00ednez-Bouzas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Teresa","family":"Calvo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria-Rosario","family":"Domingo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feliciano","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ainhoa","family":"Garc\u00eda-Ribes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Jes\u00fas","family":"Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Asunci\u00f3n","family":"L\u00f3pez-Ar\u00edztegui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nerea","family":"Puente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Izaskun","family":"Rubio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Isabel","family":"Tejada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,8,6]]},"reference":[{"issue":"6","key":"974_CR1","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1002\/ana.22124","volume":"68","author":"JL Neul","year":"2010","unstructured":"Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK, RettSearch Consortium: Rett syndrome: revised diagnostic criteria and nomenclature. 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