{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:34:41Z","timestamp":1790652881663,"version":"4.1.0"},"reference-count":71,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T00:00:00Z","timestamp":1742774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the National Research Foundation of Korea (NRF)","award":["2021RIF1A063568"],"award-info":[{"award-number":["2021RIF1A063568"]}]},{"name":"the National Research Foundation of Korea (NRF)","award":["CMCDJ-P-2023-004"],"award-info":[{"award-number":["CMCDJ-P-2023-004"]}]},{"name":"Catholic University of Korea Daejeon St. Mary\u2019s Hospital","award":["2021RIF1A063568"],"award-info":[{"award-number":["2021RIF1A063568"]}]},{"name":"Catholic University of Korea Daejeon St. Mary\u2019s Hospital","award":["CMCDJ-P-2023-004"],"award-info":[{"award-number":["CMCDJ-P-2023-004"]}]},{"name":"Biomedical Research Institute, Jeonbuk National University Hospital","award":["2021RIF1A063568"],"award-info":[{"award-number":["2021RIF1A063568"]}]},{"name":"Biomedical Research Institute, Jeonbuk National University Hospital","award":["CMCDJ-P-2023-004"],"award-info":[{"award-number":["CMCDJ-P-2023-004"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This study investigated the genetic causes of atypical cerebral palsy (CP) through chromosomal microarray (CMA) and exome sequencing (ES) in a cohort of 10 Korean patients to identify variants and expand the spectrum of mutations associated with atypical cerebral palsy. Whole ES and\/or genome sequencing (GS) after routine karyotyping and CMA was performed to identify causative variants and expand the spectrum of mutations associated with atypical CP. In cases of atypical CP, scoliosis and\/or kyphosis, ranging from mild to severe, were present in all patients. Epilepsy was a comorbidity in seven patients (70%), and intellectual disability (ID) was observed in varying degrees. This study identified three copy number variations (CNVs), including 15q11.2 microdeletion (n = 1), 17p11.2 duplication (n = 1), and 12p13.33p11.23 duplication\/18p11.32 microdeletion (n = 1), and six likely pathogenic variants (LPVs) or pathogenic variants (PVs) detected in the SLC2A1, PLAA, CDC42BPB, CACNA1D, ALG12, and SACS genes (n = 6). These findings emphasize the significance of incorporating genetic testing into the diagnostic process for atypical CP to improve our understanding of its molecular basis and inform personalized treatment strategies. To further advance this research, future studies should focus on exploring genotype\u2013phenotype correlations, assessing the functional impact of identified variants, and increasing the sample size to validate the observed patterns.<\/jats:p>","DOI":"10.3390\/ijms26072929","type":"journal-article","created":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T07:46:50Z","timestamp":1742802410000},"page":"2929","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4174-5266","authenticated-orcid":false,"given":"Ji Yoon","family":"Han","sequence":"first","affiliation":[{"name":"Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea"},{"name":"Department of Pediatrics, Daejeon St. Mary\u2019s Hospital, Daejeon 34943, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0932-9542","authenticated-orcid":false,"given":"Jin","family":"Gwack","sequence":"additional","affiliation":[{"name":"Department of Preventive Medicine, Jeonbuk National University Medical School, Jeonju 54907, Republic of Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong Hun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Thoracic and Cardiovascular Surgery, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Kyu","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacology and Therapeutics, Chungbuk National University College of Medicine and Hospital, Cheongju 28644, Republic of Korea"},{"name":"Research Institute of Cheongju-Osong Advanced Clinical Trial Center, Osong 28161, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-4234","authenticated-orcid":false,"given":"Joonhong","family":"Park","sequence":"additional","affiliation":[{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea"},{"name":"Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,24]]},"reference":[{"key":"ref_1","first-page":"8","article-title":"A report: The definition and classification of cerebral palsy April 2006","volume":"109","author":"Rosenbaum","year":"2007","journal-title":"Dev. 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