{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:28Z","timestamp":1785183868259,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,3,23]],"date-time":"2018-03-23T00:00:00Z","timestamp":1521763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Pontocerebellar hypoplasia type 6 (<jats:styled-content style=\"fixed-case\">PCH<\/jats:styled-content>6) is an autosomal recessive mitochondrial disease, typically characterized by pontine atrophy, vermian hypoplasia, infantile encephalopathy, generalized hypotonia, and intractable seizures. The purpose of this study is to describe the seizures and other neurological manifestations of <jats:italic><jats:styled-content style=\"fixed-case\">RARS<\/jats:styled-content><\/jats:italic>2 gene mutations and to compare the clinical features with other causes of progressive myoclonic epilepsy. Detailed history, physical examination, and clinical and genetic work\u2010up were performed in 2 siblings who presented with progressive myoclonic epilepsy. One sibling, a 20\u2010year\u2010old woman, and the other a 24\u2010year\u2010old man, had a homozygous missense variant (c.848T&gt;A; p.Leu283Gln) in exon 10 of the <jats:italic><jats:styled-content style=\"fixed-case\">RARS<\/jats:styled-content><\/jats:italic>2 gene. The female patient had action and audiogenic myoclonic jerks, postural tremors, spastic dysarthria, and bradykinesia, and her male sibling had similar features with oculomotor apraxia. <jats:styled-content style=\"fixed-case\">The <jats:italic>RARS<\/jats:italic><\/jats:styled-content>2 gene mutation can present with myoclonic epilepsy, mental retardation, and pyramidal and extrapyramidal features, and is an important differential for causes of progressive myoclonic epilepsy.<\/jats:p>","DOI":"10.1002\/epi4.12108","type":"journal-article","created":{"date-parts":[[2018,2,26]],"date-time":"2018-02-26T15:28:33Z","timestamp":1519658913000},"page":"270-275","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Expanding spectrum of <i><scp>RARS<\/scp><\/i>2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features"],"prefix":"10.1002","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3941-8020","authenticated-orcid":false,"given":"Thomas","family":"Mathew","sequence":"first","affiliation":[{"name":"Department of Neurology St. John's Medical College Hospital Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amrutha","family":"Avati","sequence":"additional","affiliation":[{"name":"Department of Neurology St. John's Medical College Hospital Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delon","family":"D'Souza","sequence":"additional","affiliation":[{"name":"Department of Neurology St. John's Medical College Hospital Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjusha","family":"Therambil","sequence":"additional","affiliation":[{"name":"Department of Neurology St. John's Medical College Hospital Bengaluru Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0525-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0000000000000209"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.31"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/521227"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9487-9"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-016-9827-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13358"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(05)70043-0"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fepi4.12108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T07:29:25Z","timestamp":1694849365000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,23]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1002\/epi4.12108"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12108","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,23]]},"assertion":[{"value":"2018-02-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}