{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:08:48Z","timestamp":1758474528153},"reference-count":15,"publisher":"Wiley","issue":"3-4","license":[{"start":{"date-parts":[[2016,8,25]],"date-time":"2016-08-25T00:00:00Z","timestamp":1472083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005646","name":"Actelion Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007819","name":"Allergan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007819","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001254","name":"Ipsen Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001254","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004374","name":"Medtronic","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004374","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007775","name":"Universidade Cat\u00f3lica de Bras\u00edlia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007775","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A 42\u2010year\u2010old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy. After exclusion of acquired disorders, diagnostic work\u2010up included application of next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>), with a gene panel targeting progressive myoclonic epilepsies. This resulted in the diagnosis Lafora disease resulting from compound heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">NHLRC<\/jats:styled-content>1<\/jats:italic> pathogenic variants. Although these pathogenic variants may be associated with a variable phenotype, including both severe and mild clinical course, the clinical presentation of our patient at this age is very unusual for Lafora disease. Our case expands the phenotype spectrum of Lafora disease resulting from pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">NHLRC<\/jats:styled-content>1<\/jats:italic> variants and illustrates the value of using NGS in clinical practice to lead to a rapid diagnosis and guide therapeutic options.<\/jats:p>","DOI":"10.1002\/epi4.12009","type":"journal-article","created":{"date-parts":[[2016,8,25]],"date-time":"2016-08-25T14:37:28Z","timestamp":1472135848000},"page":"136-139","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Unusual Course of Lafora Disease"],"prefix":"10.1002","volume":"1","author":[{"given":"Rodi","family":"Zutt","sequence":"first","affiliation":[{"name":"Department of Neurology University Medical Centre Groningen University of Groningen Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gea","family":"Drost","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Centre Groningen University of Groningen Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne J.","family":"Vos","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Centre Groningen University of Groningen Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan Willem","family":"Elting","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Centre Groningen University of Groningen Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Miedema","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Centre Groningen University of Groningen Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina A. 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