{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T14:24:38Z","timestamp":1789827878820,"version":"4.0.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T00:00:00Z","timestamp":1751241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    CDKL5 deficiency disorder (CDD) and SMC1A\u2010related epilepsy are X\u2010linked neurodevelopmental disorders characterized by early\u2010onset, mostly intractable epilepsy and severe intellectual disability. While recent advances in next\u2010generation sequencing improved diagnostic yields, detecting low\u2010frequency mosaicism remains challenging. We retrospectively analyzed the epilepsy and developmental phenotype of four female patients with mosaic\n                    <jats:italic>CDKL5<\/jats:italic>\n                    or\n                    <jats:italic>SMC1A<\/jats:italic>\n                    variants. Clinical data, including seizure types, electroencephalographic findings, neurodevelopmental milestones, and genetic analyses, were reviewed. The two girls with\n                    <jats:italic>CDKL5<\/jats:italic>\n                    mosaicism presented at 5 and 6\u2009weeks with tonic seizures, rapidly developing hypermotor\u2010tonic\u2010spasms sequence seizures. Both achieved independent walking by age two and developed speech by 3\u2009years. The two girls with\n                    <jats:italic>SMC1A<\/jats:italic>\n                    mosaicism presented clusters of focal impaired awareness, myoclonic, and tonic\u2013clonic seizures at 19 and 20\u2009months of age. They demonstrated milder intellectual disabilities, with one achieving normal speech and the other speaking over 100 words by age four. Both achieved independent walking, which is uncommon in germline patients. Girls with mosaic\n                    <jats:italic>CDKL5<\/jats:italic>\n                    and\n                    <jats:italic>SMC1A<\/jats:italic>\n                    variants share the same epilepsy phenotype as the germline females but have milder intellectual and motor disabilities compared to germline patients. Recognizing specific seizure patterns may direct genetic testing, enabling earlier diagnosis and access to precision treatment.\n                  <\/jats:p>","DOI":"10.1002\/epd2.70058","type":"journal-article","created":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T11:28:34Z","timestamp":1751282914000},"page":"1011-1020","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Epilepsy phenotype and developmental outcome in girls with mosaicism in X\u2010linked neurodevelopmental disorders"],"prefix":"10.1002","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2260-3078","authenticated-orcid":false,"given":"Evelina","family":"Carapancea","sequence":"first","affiliation":[{"name":"Institute of Neuroscience (IoNS) Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donya","family":"Eizadkhah","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine Saul R. Korey Department of Neurology, Laboratory of Developmental Epilepsy  Bronx New York USA"},{"name":"Isabelle Rapin Division of Child Neurology Albert Einstein College of MedicineBronx  New York USA"},{"name":"Department of Pediatrics Albert Einstein College of Medicine  Bronx New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2292-8881","authenticated-orcid":false,"given":"Roberto","family":"Santalucia","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics, Cliniques Universitaires Saint\u2010Luc, Institute of Neuroscience (IoNS) Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6874-6322","authenticated-orcid":false,"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institut de Pathologie et de G\u00e9n\u00e9tique  Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence A.","family":"Arts","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institut de Pathologie et de G\u00e9n\u00e9tique  Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7118-0139","authenticated-orcid":false,"given":"Lieven","family":"Lagae","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Development and Regeneration University Hospitals KU Leuven  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9427-9476","authenticated-orcid":false,"given":"Solomon L.","family":"Moshe","sequence":"additional","affiliation":[{"name":"Albert Einstein College of Medicine Saul R. Korey Department of Neurology, Laboratory of Developmental Epilepsy  Bronx New York USA"},{"name":"Isabelle Rapin Division of Child Neurology Albert Einstein College of MedicineBronx  New York USA"},{"name":"Department of Pediatrics Albert Einstein College of Medicine  Bronx New York USA"},{"name":"Dominick P Purpura Department of Neuroscience Albert Einstein College of Medicine  Bronx New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2481-8053","authenticated-orcid":false,"given":"Maria Roberta","family":"Cilio","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics, Cliniques Universitaires Saint\u2010Luc, Institute of Neuroscience (IoNS) Universit\u00e9 Catholique de Louvain  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,30]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22639"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2022.04.006"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17125"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13669"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738221081244"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38279"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16285"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.03.002"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33037"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31820605f5"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102014\u2010102573"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/MCS.A005322"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.114"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36547"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1866\u20101955\u20107\u20102"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(22)00077-1"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn197"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182166e58"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2019.02.015"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0418-y"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24065552"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhad235"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70058","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T15:41:05Z","timestamp":1763480465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.70058"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,30]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/epd2.70058"],"URL":"https:\/\/doi.org\/10.1002\/epd2.70058","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,30]]},"assertion":[{"value":"2025-03-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}