{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:23:28Z","timestamp":1787027008262,"version":"build-2736575974"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:00:00Z","timestamp":1697155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Herein, we describe the case of a 43-month-old girl who presented with clinical manifestations of dyskinetic cerebral palsy (CP), classified as the Gross Motor Function Classification System (GMFCS) V. The patient had no family history of neurological or perinatal disorders. Despite early rehabilitation, serial assessments using the Gross Motor Function Measure (GMFM) showed no significant improvements in gross motor function. Brain magnetic resonance imaging showed nonspecific findings that could not account for developmental delay or dystonia. Whole-genome sequencing identified a heterozygous NM_002074.5(GNB1):c.239T&amp;gt;C (p.Ile80Thr) mutation in guanine nucleotide-binding protein beta 1 (\n                    <jats:italic>GNB1<\/jats:italic>\n                    ) gene. Considering this case and previous studies, genetic testing for the etiology of dyskinetic CP is recommended for children without relevant or with nonspecific brain lesions.\n                  <\/jats:p>","DOI":"10.3389\/fped.2023.1204360","type":"journal-article","created":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T03:31:41Z","timestamp":1697167901000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important"],"prefix":"10.3389","volume":"11","author":[{"given":"Han-Byeol","family":"Choi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoonju","family":"Na","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiwon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeehun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ja-Hyun","family":"Jang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Won","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong-Yi","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,10,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1111\/j.1469-8749.2007.tb12610.x","article-title":"A report: the definition and classification of cerebral palsy April 2006","volume":"109","author":"Rosenbaum","year":"2007","journal-title":"Dev Med Child Neuro Suppl"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1542\/peds.2015-2872","article-title":"Birth prevalence of cerebral palsy: a population-based study","volume":"137","author":"Van Naarden Braun","year":"2016","journal-title":"Pediatrics"},{"key":"B3","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1111\/j.1469-8749.2005.tb01208.x","article-title":"Comparison of risk factors for cerebral palsy in twins and singletons","volume":"47","author":"Bonellie","year":"2005","journal-title":"Dev Med Child Neurol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1542\/peds.2005-2585","article-title":"Cerebral palsy among children born after in vitro fertilization: the role of preterm delivery\u2014a population-based, cohort study","volume":"118","author":"Hvidtj\u00f8rn","year":"2006","journal-title":"Pediatrics"},{"key":"B5","doi-asserted-by":"publisher","first-page":"2677","DOI":"10.1001\/jama.290.20.2677","article-title":"Chorioamnionitis and cerebral palsy in term and near-term infants","volume":"290","author":"Wu","year":"2003","journal-title":"JAMA"},{"key":"B6","doi-asserted-by":"publisher","first-page":"704","DOI":"10.3389\/fneur.2020.00704","article-title":"Birth asphyxia is associated with increased risk of cerebral palsy: a meta-analysis","volume":"11","author":"Zhang","year":"2020","journal-title":"Front Neurol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"625428","DOI":"10.3389\/fneur.2020.625428","article-title":"Insights from genetic studies of cerebral palsy","volume":"11","author":"Lewis","year":"2020","journal-title":"Front Neurol"},{"key":"B8","article-title":"GNB1 Encephalopathy","volume-title":"Genereviews","author":"Revah-Politi","year":""},{"key":"B9","doi-asserted-by":"publisher","first-page":"2259","DOI":"10.1002\/ajmg.a.40472","article-title":"Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature","volume":"176","author":"Hemati","year":"2018","journal-title":"Am J Med Genet A"},{"key":"B10","doi-asserted-by":"publisher","first-page":"157","DOI":"10.5723\/kjcs.2016.37.6.157","article-title":"Intellectual characteristics of Korean children: analyses of K-WPPSI-IV performance","volume":"37","author":"Park","year":"2016","journal-title":"Korean J Child Stud"},{"key":"B11","doi-asserted-by":"publisher","first-page":"851","DOI":"10.15842\/kjcp.2015.34.4.002","article-title":"Standardization study of the Korean vineland adaptive behavior scales-\u2161 (K-vineland-II)","volume":"34","author":"Hwang","year":"2015","journal-title":"Kor J Clin Psycho"},{"key":"B12","doi-asserted-by":"publisher","first-page":"81","DOI":"10.14519\/jksot.2018.26.2.07","article-title":"A validation study of the gross motor scale of Korean version of bayley scales of infant and toddler development","volume":"26","author":"Ahn","year":"2018","journal-title":"Third Edition. 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