{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:04Z","timestamp":1786978264572,"version":"build-2736575974"},"reference-count":42,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early\u2010onset myoclonus, epilepsy, generalized tonic\u2013clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased\n                      <jats:italic>CSNK1E<\/jats:italic>\n                      DNA methylation have been shown to be associated with developmental and epileptic encephalopathies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To identify structural variants or repeat expansions associated with progressive myoclonic epilepsy in an Azerbaijani family using long\u2010read sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Known genetic causes of progressive myoclonic epilepsy were ruled out through quadro\u2010exome sequencing in an individual exhibiting tonic\u2013clonic seizures, dementia, and cerebellar ataxia with an age at onset of 10\u2009years. After ruling out the presence of any other pathogenic mutation, long\u2010read whole genome sequencing was performed to investigate structural variants or repeat expansions potentially associated with the disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified a heterozygous expanded (CGG)\n                      <jats:sub>n<\/jats:sub>\n                      repeat in exon 1 of\n                      <jats:italic>CSNK1E<\/jats:italic>\n                      in the proband (longest repeat length, n\u2009=\u2009745) and her unaffected sister (longest repeat length, n\u2009=\u2009980). The unaffected father was wild\u2010type, while the unaffected mother had an intermediate\u2010sized repeat expansion (n\u2009=\u2009131), which might have expanded to a pathogenic length in the siblings upon transmission. The expanded allele exhibited higher methylation levels than the wild\u2010type, with globally elevated methylation in both siblings compared with parental samples.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We suggest the association of the\n                      <jats:italic>CSNK1E<\/jats:italic>\n                      \u2010CGG expansion with incomplete penetrance in an Azerbaijani case with progressive myoclonic epilepsy, broadening its phenotypic spectrum. Our findings support the utility of long\u2010read sequencing and methylation analysis as powerful approaches to identifying and characterizing disease\u2010associated expanded repeats. \u00a9 2025 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.30326","type":"journal-article","created":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T04:40:40Z","timestamp":1754109640000},"page":"2469-2475","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A\n                    <scp>CGG<\/scp>\n                    Repeat Expansion in\n                    <scp>\n                      <i>CSNK1E<\/i>\n                    <\/scp>\n                    Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance"],"prefix":"10.1002","volume":"40","author":[{"given":"Fulya","family":"Ak\u00e7imen","sequence":"first","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Alvarez Jerez","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias National Institute on Aging  Bethesda Maryland USA"},{"name":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulviyya","family":"Guliyeva","sequence":"additional","affiliation":[{"name":"MediClub Hospital  Baku Azerbaijan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laksh","family":"Malik","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias National Institute on Aging  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Breeana","family":"Baker","sequence":"additional","affiliation":[{"name":"Center for Alzheimer's and Related Dementias National Institute on Aging  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Salayev","sequence":"additional","affiliation":[{"name":"MediClub Hospital  Baku Azerbaijan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sughra","family":"Guliyeva","sequence":"additional","affiliation":[{"name":"MediClub Hospital  Baku Azerbaijan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8003-4029","authenticated-orcid":false,"given":"Kimberley J.","family":"Billingsley","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, Laboratory of Neurogenetics National Institute on Aging, National Institutes of Health  Bethesda Maryland USA"},{"name":"Center for Alzheimer's and Related Dementias National Institute on Aging  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew B.","family":"Singleton","sequence":"additional","affiliation":[{"name":"Molecular Genetics Section, 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