{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:43Z","timestamp":1777804903660,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T00:00:00Z","timestamp":1746662400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>\n                    Progressive myoclonic epilepsy is a heterogeneous group of disorders characterized by drug-resistant epilepsy, cognitive decline, and ataxia. Genetic testing is crucial for diagnosis, but the choice of test depends on the variant type. We present a case of an adult with a PME phenotype since age 17 years, remaining undiagnosed for 4 years because of improper genetic testing. His father had progressive ataxia with a spinocerebellar ataxia phenotype. The unique presentation, combined with autosomal dominant inheritance and anticipation, suggested dentatorubral-pallidoluysian atrophy.\n                    <jats:italic toggle=\"yes\">ATN1<\/jats:italic>\n                    gene polymerase chain reaction testing confirmed trinucleotide repeat expansion. This case highlights the importance of selecting the appropriate genetic test for accurate diagnosis. We propose a flowchart based on clinical history and findings to narrow down differential diagnoses and guide the choice of testing.\n                  <\/jats:p>","DOI":"10.1177\/08830738251337972","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T02:38:04Z","timestamp":1746758284000},"page":"686-690","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing"],"prefix":"10.1177","volume":"40","author":[{"given":"Prasanthi","family":"Aripirala","sequence":"first","affiliation":[{"name":"Rainbow Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7512-2593","authenticated-orcid":false,"given":"Sujit Abajirao","family":"Jagtap","sequence":"additional","affiliation":[{"name":"Deenanath Mangeshkar Hospital and Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,5,8]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.68660"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/s42494-020-00023-z"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70043-0"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00043-5"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61558"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2019.08.012"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebr.2019.100332"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/s42466-020-0053-x"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2012.07.001"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000077"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000641"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.439"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23167"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-9"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22642"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.128074"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30355"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00175-6"},{"issue":"2","key":"e_1_3_2_21_2","first-page":"213","article-title":"Electroencephalographic findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA)","volume":"43","author":"Inazuki G","year":"1989","unstructured":"Inazuki G, Baba K, Naito H. Electroencephalographic findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Jpn J Psychiatry Neurol. 1989;43(2):213\u2013220.","journal-title":"Jpn J Psychiatry Neurol"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251337972","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251337972","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251337972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:37Z","timestamp":1777495297000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251337972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,8]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1177\/08830738251337972"],"URL":"https:\/\/doi.org\/10.1177\/08830738251337972","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,8]]}}}