{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:50:26Z","timestamp":1780318226791,"version":"3.54.1"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T00:00:00Z","timestamp":1586304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008061","name":"Fundaci\u00f3n Mutua Madrile\u00f1a","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To delineate the epileptic phenotype of <jats:italic>LAMA2<\/jats:italic>\u2010related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of <jats:italic>LAMA2<\/jats:italic>\u2010related MD were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Epilepsy occurred in 36% of patients with <jats:italic>LAMA2<\/jats:italic>\u2010related MD. Mean age at first seizure was 8\u00a0years. The most common presenting seizure type was focal\u2010onset seizures with or without impaired awareness. Visual aura and autonomic signs, including vomiting, were frequently reported. Despite a certain degree of variability, bilateral occipital or temporo\u2010occipital epileptiform abnormalities were by far the most commonly observed. Refractory epilepsy was found in 75% of these patients. Epilepsy in <jats:italic>LAMA2<\/jats:italic>\u2010related MD was significantly more prevalent in those patients in whom the cortical malformations were more extensive. In contrast, the occurrence of epilepsy was not found to be associated with the patients' motor ability, the size of their white matter abnormalities, or the amount of residual merosin expressed on muscle.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>The epileptic phenotype of <jats:italic>LAMA2<\/jats:italic>\u2010related MD is characterized by focal seizures with prominent visual and autonomic features associated with EEG abnormalities that predominate in the posterior quadrants. A consistent correlation between epileptic phenotype and neuroimaging was identified, suggesting that the extension of the polymicrogyria may serve as a predictor of epilepsy occurrence.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.16493","type":"journal-article","created":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T12:28:45Z","timestamp":1586348925000},"page":"971-983","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Epilepsy in <i>LAMA2<\/i>\u2010related muscular dystrophy: An electro\u2010clinico\u2010radiological characterization"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7764-2085","authenticated-orcid":false,"given":"Daniel","family":"Natera\u2010de Benito","sequence":"first","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Muchart","sequence":"additional","affiliation":[{"name":"Department of Radiology Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Itzep","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Gonz\u00e1lez\u2010Quereda","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital de la Santa Creu i Sant Pau and CIBERER U705 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00eda","family":"Gallano","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital de la Santa Creu i Sant Pau and CIBERER U705 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alia","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Unit of Epilepsy, Sleep and Neurophysiology Neuropaediatrics Department Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Aparicio","sequence":"additional","affiliation":[{"name":"Unit of Epilepsy, Sleep and Neurophysiology Neuropaediatrics Department Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Dom\u00ednguez\u2010Carral","sequence":"additional","affiliation":[{"name":"Unit of Epilepsy, Sleep and Neurophysiology Neuropaediatrics Department Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4762-7591","authenticated-orcid":false,"given":"Laura","family":"Carrera\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Exp\u00f3sito\u2010Escudero","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalia","family":"Pardo Cardozo","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Cuadras","sequence":"additional","affiliation":[{"name":"Statistics Department Fundaci\u00f3 Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Codina","sequence":"additional","affiliation":[{"name":"Department of Pathology Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Jou","sequence":"additional","affiliation":[{"name":"Department of Pathology Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Jimenez\u2010Mallebrera","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Palau","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine Hospital Sant Joan de D\u00e9u Barcelona Spain"},{"name":"Laboratory of Neurogenetics and Molecular Medicine Institut de Recerca Sant Joan de D\u00e9u Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Barcelona Spain"},{"name":"Institute of Medicine and Dermatology Hospital Cl\u00ednic and Division of Pediatrics University of Barcelona School of Medicine and Health Sciences Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Colomer","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Arzimanoglou","sequence":"additional","affiliation":[{"name":"Unit of Epilepsy, Sleep and Neurophysiology Neuropaediatrics Department Hospital Sant Joan de D\u00e9u Barcelona Spain"},{"name":"Epileptology, Sleep Disorders and Functional Pediatric Neurology Member of ERN\u2010EpiCARE; HFME Hospices Civils de Lyon Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Neuropaediatrics Department Institut de Recerca Hospital Sant Joan de D\u00e9u and CIBERER U703 Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"San Antonio\u2010Arce","sequence":"additional","affiliation":[{"name":"Unit of Epilepsy, Sleep and Neurophysiology Neuropaediatrics Department Hospital Sant Joan de D\u00e9u Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200743"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23548"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.06.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.22618"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.1.94"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23599"},{"key":"e_1_2_9_8_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Quijano\u2010Roy S","year":"2012"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.10.649"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00352-6"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2010.02.003"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10544"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181f11dd5"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.05.008"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12366"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90344-5"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.270.5237.755"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2008.01.010"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00110-2"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.02.001"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(96)00028-9"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22132"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000007954"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01068.x"},{"key":"e_1_2_9_25_1","first-page":"11","article-title":"IFCN standards for digital recording of clinical EEG. The International Federation of Clinical Neurophysiology","volume":"52","author":"Nuwer M","year":"1999","journal-title":"Electroencephalogr Clin Neurophysiol Suppl"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2002.01361.x"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2005.66104.x"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182563b19"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13121"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh458"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNP.0b013e31826c98fe"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2012.08.020"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2016.06.014"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.09.017"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31435"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00522.x"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.16493","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.16493","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/epi.16493","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.16493","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T02:40:30Z","timestamp":1693968030000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.16493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,8]]},"references-count":36,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1111\/epi.16493"],"URL":"https:\/\/doi.org\/10.1111\/epi.16493","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,8]]},"assertion":[{"value":"2019-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}