{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T20:55:18Z","timestamp":1766609718070,"version":"3.40.5"},"reference-count":37,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T00:00:00Z","timestamp":1683331200000},"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"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial adult myoclonus epilepsy (FAME) is characterized by cortical myoclonus and often epileptic seizures, but the pathophysiology of this condition remains uncertain. Here, we review the neuroimaging and neuropathological findings in FAME. Imaging findings, including functional magnetic resonance imaging, are in line with a cortical origin of involuntary tremulous movements (cortical myoclonic tremor) and indicate a complex pattern of cerebellar functional connectivity. Scarce neuropathological reports, mainly from a single family, provide evidence of morphological changes in the Purkinje cells. Cerebellar changes seem to be part of the syndrome, in at least some FAME pedigrees. Cortical hyperexcitability in FAME, resulting in the cardinal clinical symptoms, might be the result of decreased cortical inhibition via the cerebellothalamocortical loop. The pathological findings might share some similarities with other pentanucleotide repeat disorders. The relation with genetic findings in FAME needs to be elucidated.<\/jats:p>","DOI":"10.1111\/epi.17628","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T07:21:40Z","timestamp":1682407300000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8376-9098","authenticated-orcid":false,"given":"Anne\u2010Fleur","family":"van Rootselaar","sequence":"first","affiliation":[{"name":"Department of Neurology and Clinical Neurophysiology Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Neuroscience  Amsterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirio","family":"Cocozza","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Aronica","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, Amsterdam Neuroscience Amsterdam University Medical Center, University of Amsterdam  Amsterdam the Netherlands"},{"name":"Stichting Epilepsie Instellingen Nederland  Heemstede the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini, member of European Reference Network EpiCARE  Genoa Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa  Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.434"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa259"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12763-9"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-12671-y"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2019.03.009"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0067-2"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17504"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000260063.46425.7e"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01976.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0729-x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/hbm.20477"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000001767"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneumeth.2008.04.012"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.03.005"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13372"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-012-0414-2"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01900.x"},{"key":"e_1_2_10_19_1","first-page":"485","article-title":"A 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