{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T05:34:35Z","timestamp":1788413675734,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014438","name":"Business Finland","doi-asserted-by":"publisher","award":["2956\/31\/2018"],"award-info":[{"award-number":["2956\/31\/2018"]}],"id":[{"id":"10.13039\/501100014438","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007472","name":"University of Kentucky","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007472","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019741","name":"Muir Maxwell Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019741","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015873","name":"National Brain Appeal","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015873","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["322423"],"award-info":[{"award-number":["322423"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011111","name":"UCB UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011111","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012621","name":"University College London Hospitals Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012621","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT104033AIA"],"award-info":[{"award-number":["WT104033AIA"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the <jats:italic>CSTB<\/jats:italic> gene, most commonly dodecamer repeat expansions. Although transcranial magnetic stimulation (TMS)\u2013induced long\u2010interval intracortical inhibition (LICI) was previously reported to be normal in EPM1, short\u2010interval intracortical inhibition (SICI) was reduced. We explored the association between these measures and the clinical and genetic features in a separate group of patients with EPM1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>TMS combined with electromyography was performed under neuronavigation. LICI was induced with an inter\u2010stimulus interval (ISI) of 100\u2009ms, and SICI with ISIs of 2 and 3\u00a0ms, and their means (mSICIs) were expressed as the ratio of conditioned to unconditioned stimuli. LICI and mSICI were compared between patients and controls. Nonparametric correlation was used to study the association between inhibition and parameters of clinical severity, including the Unified Myoclonus Rating Scale (UMRS); among patients with EPM1 due to biallelic expansion repeats, also the association with the number of repeats was assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study protocol was completed in 19 patients (15 with biallelic expansion repeats and 4 compound heterozygotes), and 7 healthy, age\u2010 and sex\u2010matched control participants. Compared to controls, patients demonstrated significantly less SICI (median mSICI ratio 1.18 vs 0.38; <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001). Neither LICI nor SICI was associated with parameters of clinical severity. In participants with biallelic repeat expansions, the number of repeats in the more affected allele (greater repeat number [GRN]) correlated with LICI (rho\u00a0=\u00a00.872; <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001) and SICI (rho\u00a0=\u00a00.689; <jats:italic>p<\/jats:italic>\u00a0=\u00a0.006).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Our results strengthen the finding of deranged \u03b3\u2010aminobutyric acid (GABA)ergic inhibition in EPM1. LICI and SICI may have use as markers of GABAergic impairment in future trials of disease\u2010modifying treatment in this condition. Whether a higher number of expansion repeats leads to greater GABAergic impairment warrants further study.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.17466","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T07:39:44Z","timestamp":1668757184000},"page":"208-217","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Short\u2010 and long\u2010interval intracortical inhibition in <scp>EPM1<\/scp> is related to genotype"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8456-0029","authenticated-orcid":false,"given":"Katri","family":"Silvennoinen","sequence":"first","affiliation":[{"name":"Kuopio Epilepsy Center, Neurocenter Member of ERN EpiCARE, Kuopio University Hospital  Kuopio Finland"},{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology  London UK"},{"name":"Chalfont Centre for Epilepsy  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"S\u00e4is\u00e4nen","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Kuopio Epilepsy Center, Neurocenter Member of ERN EpiCARE, Kuopio University Hospital  Kuopio Finland"},{"name":"Department of Applied Physics University of Eastern Finland  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Hypp\u00f6nen","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology, Kuopio Epilepsy Center, Neurocenter Member of ERN EpiCARE, Kuopio University Hospital  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saara M.","family":"Rissanen","sequence":"additional","affiliation":[{"name":"Department of Applied Physics University of Eastern Finland  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasi A.","family":"Karjalainen","sequence":"additional","affiliation":[{"name":"Department of Applied Physics University of Eastern Finland  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6600-6419","authenticated-orcid":false,"given":"Sasha","family":"D'Ambrosio","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology  London UK"},{"name":"Dipartimento di Scienze Biomediche e Cliniche \"L. Sacco\" Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Jimenez\u2010Jimenez","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Zagaglia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Rothwell","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders UCL Queen Square Institute of Neurology  London 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