{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T10:25:23Z","timestamp":1768472723232,"version":"3.49.0"},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3021,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1996,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11\u201313. This region encompasses three GABA<jats:sub>A<\/jats:sub> receptor subunit genes (\u03b23, \u03b15, and \u03b33). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the movement disorder in 11 AS patients, aged 3 to 28 years. Two patients had paternal uniparental disomy for chromosome 15, 8 had a &lt;3 Mb deletion, and 1 had a microdeletion involving loci D15S10, D15S113, and GABRB3. All patients exhibited quasicontinuous rhythmic myoclonus mainly involving hands and face, accompained by rhythmic 5\u2010 to 10\u2010Hz electroencephalographic (EEG) activity. Electromyographic bursts lasted 35 \u00b1 13 msec and had a frequency of 11 \u00b1 2.4 Hz. Burst\u2010locked EEG averaging in 5 patients, generated a premyoclonus transient preceding the burst by 19 \u00b1 5 msec. A cortical spread pattern of myoclonic cortical activity was observed. Seven patients also demonstrated myoclonic seizures. No giant somatosensory evoked potentials or C\u2010reflex were observed. The silent period following motor evoked potentials was shortened by 70%, indicating motor cortex hyperexcitability. Treatment with piracetam in 5 patients significantly improved myoclonus. We conclude that spontaneous, rhythmic, fast\u2010bursting cortical myoclonus is a prominent feature of AS.<\/jats:p>","DOI":"10.1002\/ana.410400109","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:46:58Z","timestamp":1104590818000},"page":"39-48","source":"Crossref","is-referenced-by-count":119,"title":["Cortical myoclonus in angelman syndrome"],"prefix":"10.1002","volume":"40","author":[{"given":"Renzo","family":"Guerrini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Bonanni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"de Lorey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 M.","family":"Serratosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Moncla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Perrine","family":"Malzac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Dravet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Odile","family":"Igvet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Bureau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Genton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georges","family":"Suisse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferdinando","family":"Sartucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Simi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1965.tb07844.x"},{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280107"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280407"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90278-W"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.223.298"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460105"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389200700307"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1992.tb01763.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.67.7.889"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520207"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.9.756"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"},{"key":"e_1_2_1_13_2","first-page":"313","article-title":"Molecular diagnosis of the Prader\u2010Willi and Angelman syndromes by detection of parent\u2010of\u2010origin specific DNA methylation in 15q11\u201313\u2010specific markers","volume":"90","author":"Dittrich B","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694supp-246"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1159\/000133717"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1991.sp018479"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870030306"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870080112"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/114.5.2333"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.48.6.506"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.10.1037"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(75)90046-2"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.6.1078"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.11.2346"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.8.1107"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.1.193"},{"key":"e_1_2_1_28_2","first-page":"143","volume-title":"Negative motor phenomena. Advances in neurology","author":"Rothwell JC","year":"1995"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002826-198602000-00006"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004691-199210000-00004"},{"key":"e_1_2_1_31_2","first-page":"196","volume-title":"Movement disorders","author":"Marsden CD","year":"1982"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/108.1.225"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/0168-5597(92)90116-S"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.3.416"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/364448a0"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.15.6968"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1152\/jn.1982.48.6.1302"},{"key":"e_1_2_1_38_2","first-page":"79","volume-title":"Electrophysiology of epilepsy","author":"Connors BW","year":"1984"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070202"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1979.tb04821.x"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-2999(89)90535-9"},{"key":"e_1_2_1_42_2","first-page":"741","volume-title":"Huntington's chorea. Advances in neurology","author":"Enna SJ","year":"1979"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1982.tb04531.x"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460106"},{"key":"e_1_2_1_45_2","first-page":"330","article-title":"Localization of the gene encoding the GabaA receptor B3 subunit to the Angelman\/Prader\u2010Willi region of human chromosome 15","volume":"49","author":"Wagstaff J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_46_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.2.183"},{"key":"e_1_2_1_47_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1409"},{"key":"e_1_2_1_48_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)92606-T"},{"key":"e_1_2_1_49_2","first-page":"1216","article-title":"High\u2010resolution mapping of the gamma\u2010aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11\u2013q13, and localization of breakpoints in two Angelman syndrome patients","volume":"52","author":"Sinnett D","year":"1993","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_50_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-2999(85)90338-3"},{"key":"e_1_2_1_51_2","first-page":"925","volume-title":"Antiepileptic drugs","author":"K\u00e4lv\u00e4inen N","year":"1995"},{"key":"e_1_2_1_52_2","first-page":"1057","volume-title":"Antiepileptic drugs","author":"\u00d8stergaard LH","year":"1995"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410400109","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410400109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T17:28:00Z","timestamp":1695835680000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410400109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,7]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1996,7]]}},"alternative-id":["10.1002\/ana.410400109"],"URL":"https:\/\/doi.org\/10.1002\/ana.410400109","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,7]]}}}