{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:00:31Z","timestamp":1791388831580,"version":"4.3.3"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>\n                    While ATPase Copper Transporting Beta (\n                    <jats:italic toggle=\"yes\">ATP7B<\/jats:italic>\n                    ), Dystonia-1 (\n                    <jats:italic toggle=\"yes\">DYT-1<\/jats:italic>\n                    ), Lysine (K) Methyl transferase 2B (\n                    <jats:italic toggle=\"yes\">KMT2B<\/jats:italic>\n                    ), and Adenylate Cyclase 5 (\n                    <jats:italic toggle=\"yes\">ADCY5<\/jats:italic>\n                    ) gene mutations are well-characterized causes of childhood-onset choreo-dystonic movement disorders, G protein subunit alpha O1 (GNAO1)-related disorders are not commonly suspected. The\n                    <jats:italic toggle=\"yes\">GNAO1<\/jats:italic>\n                    gene is crucial for neuronal transmission, and its mutation has been linked to neurodevelopmental delay, infantile-onset epilepsy, and movement disorders. To the best of our knowledge, only five Indian cases have been reported to date. We report a 9-year-old girl with predominant choreo-dystonic manifestations along with dyskinetic storm, i.e., episodes of significant worsening in involuntary movements following febrile episodes. Her brain magnetic resonance imaging (MRI) was unremarkable. She presented to us in a dyskinetic crisis, which responded to oral haloperidol. Thus,\n                    <jats:italic toggle=\"yes\">GNAO1<\/jats:italic>\n                    -related disorder must be suspected in a child with developmental delay, infantile- to childhood-onset seizures with\/without movement disorders, along with episodes of dyskinetic crisis related to stress or febrile episodes.\n                  <\/jats:p>","DOI":"10.4103\/aian.aian_316_25","type":"journal-article","created":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T10:00:54Z","timestamp":1762336854000},"page":"905-907","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect!"],"prefix":"10.4103","volume":"28","author":[{"given":"Manas","family":"Saxena","sequence":"first","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Bibinagar, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T Ashok V","family":"Reddy","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Bibinagar, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaniti","family":"Sowjanya","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Bibinagar, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V Mounika","family":"Reddy","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, All India Institute of Medical Sciences, Bibinagar, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niraj","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Bibinagar, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,11,5]]},"reference":[{"key":"R1-20251222","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1093\/hmg\/ddab235","article-title":"Genetic modeling of GNAO1 disorder delineates mechanisms of G\u03b1o dysfunction","volume":"31","author":"Wang","year":"2022","journal-title":"Hum Mol Genet"},{"key":"R2-20251222","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/mds.29881","article-title":"Clinical and molecular profiling in GNAO1 permits phenotype\u2013genotype correlation","volume":"39","author":"Lasa\u2010Aranzasti","year":"2024","journal-title":"Mov Disord"},{"key":"R3-20251222","doi-asserted-by":"crossref","first-page":"829","DOI":"10.4103\/aian.aian_597_23","article-title":"GNAO1-related neurodevelopmental disorder presenting as acute encephalitis syndrome: A phenotypic expansion","volume":"26","author":"Panda","year":"2023","journal-title":"Ann Indian Acad Neurol"},{"key":"R4-20251222","doi-asserted-by":"crossref","first-page":"100094","DOI":"10.1016\/j.lansea.2022.100094","article-title":"Exploring the genetic landscape of diphtheria, tetanus and pertussis vaccination-associated seizures or subsequent epilepsies","volume":"8","author":"Negi","year":"2023","journal-title":"Lancet Reg Health-Southeast Asia"},{"key":"R5-20251222","first-page":"1","article-title":"A Clinical Case of Primary Dystonia and Hypoceruloplasminemia Caused by Digenic Mutations in GNAO1 and CP Gene from Eastern India","volume":"50","author":"Sadhukhan","year":"2025","journal-title":"IJCMCR"},{"key":"R6-20251222","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/mdc3.14291","article-title":"The spectrum of GNAO1 mutation can include childhood\u2010onset isolated generalized dystonia","volume":"12","author":"Chowdhury","year":"2025","journal-title":"Mov Disord Clin Pract"},{"key":"R7-20251222","first-page":"107","article-title":"A Rare Case of Movement Disorder with Developmental Delay [Clinical Phenotype of de novo Gnao1 mutation]: Case Report and Review of Literature","volume":"3","author":"Satish","year":"2022","journal-title":"Indian J Neurol"},{"key":"R8-20251222","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.jns.2018.05.018","article-title":"Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia","volume":"391","author":"Koy","year":"2018","journal-title":"J Neurol Sci"},{"key":"R9-20251222","doi-asserted-by":"crossref","first-page":"3273","DOI":"10.1093\/brain\/awad039","article-title":"The clinical and genetic spectrum of autosomal-recessive TOR1A -related disorders","volume":"146","author":"Saffari","year":"2023","journal-title":"Brain"},{"key":"R10-20251222","doi-asserted-by":"crossref","first-page":"285","DOI":"10.14802\/jmd.23035","article-title":"KMT2B-related dystonia in indian patients with literature review and emphasis on asian cohort","volume":"16","author":"Dhar","year":"2023","journal-title":"J Mov Disord"},{"key":"R11-20251222","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1002\/mdc3.13796","article-title":"Scoping review on ADCY5 \u2010related movement disorders","volume":"10","author":"Menon","year":"2023","journal-title":"Mov Disord Clin Pract"},{"key":"R12-20251222","doi-asserted-by":"crossref","first-page":"100582","DOI":"10.1016\/j.ebr.2022.100582","article-title":"GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey","volume":"21","author":"JoJo","year":"2023","journal-title":"Epilepsy Behav Rep"},{"key":"R13-20251222","doi-asserted-by":"crossref","first-page":"105405","DOI":"10.1016\/j.parkreldis.2023.105405","article-title":"GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments","volume":"111","author":"Novelli","year":"2023","journal-title":"Parkinsonism Relat Disord"},{"key":"R14-20251222","doi-asserted-by":"crossref","first-page":"1403815","DOI":"10.3389\/fneur.2024.1403815","article-title":"Dyskinetic crisis in GNAO1-related disorders: Clinical perspectives and management strategies","volume":"15","author":"Dom\u00ednguez","year":"2024","journal-title":"Front Neurol"},{"key":"R15-20251222","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s40734-017-0057-z","article-title":"Dystonic storm: A practical clinical and video review","volume":"4","author":"Termsarasab","year":"2017","journal-title":"J Clin Mov Disord"}],"container-title":["Annals of Indian Academy of 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