{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:12:42Z","timestamp":1791922362497,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T00:00:00Z","timestamp":1492560000000},"content-version":"vor","delay-in-days":49,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,3]]},"abstract":"Abstract<\/jats:title>We describe a case of GNAO1\u2010associated epilepsy and chorea in a patient with a de novo<\/jats:italic> pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2\u2010years\u2010old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized\u2010onset seizures. Genetic testing found a de novo<\/jats:italic> pathogenic variant in the GNAO1<\/jats:italic> gene (c.607G>A; p.Gly203Arg). A review of the literature showed two other patients with similar phenotype and the same genetic variant. In contrast, other patients with neurological involvement had private mutations in the GNAO1<\/jats:italic> gene. The neurological phenotypes associated with GNAO1<\/jats:italic> mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. [Published with video sequence on<\/jats:italic> www.epilepticdisorders.com<\/jats:ext-link>]<\/jats:p>","DOI":"10.1684\/epd.2017.0888","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"67-75","source":"Crossref","is-referenced-by-count":38,"title":["GNAO1\u2010associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype"],"prefix":"10.1002","volume":"19","author":[{"given":"Ravindra","family":"Arya","sequence":"first","affiliation":[{"name":"Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Spaeth","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center Cincinnati Ohio"},{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald L.","family":"Gilbert","sequence":"additional","affiliation":[{"name":"Movement Disorders and Tourette's Syndrome Clinics, Division of Neurology, Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James L.","family":"Leach","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neuroradiology, Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Holland","sequence":"additional","affiliation":[{"name":"Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389200700102"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.08.013"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.108.054296"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)85162-1"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.106.031773"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1059-1311(96)80104-X"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815587945"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.10.011"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0416-0"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.014"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02429.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.92"},{"key":"e_1_2_6_14_1","unstructured":"TalvikI.M\u00f8llerR.S.VaherM.et al. Clinical phenotype of mutation: case report and review of literaturede novo GNAO1Child Neurol Open20151\u20137."}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2017.0888","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:10:21Z","timestamp":1710778221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2017.0888"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1684\/epd.2017.0888"],"URL":"https:\/\/doi.org\/10.1684\/epd.2017.0888","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}