{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1362825893534784128.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1111/epi.12238"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fepi.12238"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12238"}}],"dc:title":[{"@value":"Polymicrogyria‐associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Summary</jats:title><jats:sec><jats:title>Purpose</jats:title><jats:p>Polymicrogyria (<jats:styled-content style=\"fixed-case\">PMG</jats:styled-content>) is an epileptogenic malformation of cortical development. We describe the clinical epilepsy and imaging features of a large cohort with <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content>‐related epilepsy.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Participants were recruited through the Epilepsy Phenome/Genome Project, a multicenter collaborative effort to collect detailed phenotypic data on individuals with epilepsy. We reviewed phenotypic data from participants with epilepsy and <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content>.</jats:p></jats:sec><jats:sec><jats:title>Key Findings</jats:title><jats:p>We identified 87 participants, 43 female and 44 male, with <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> and epilepsy. Median age of seizure onset was 3 years (range <1 month to 37 years). Most presented with focal epilepsy (87.4%), some in combination with seizures generalized from onset (23.0%). Focal seizures with dyscognitive features were most common (54.3%). Of those presenting with generalized seizure types, infantile spasms were most prevalent (45.2%). The most common topographic pattern was perisylvian <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> (77.0%), of which the majority was bilateral (56.7%). Generalized <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> presented with an earlier age of seizure onset (median age of 8 months) and an increased prevalence of developmental delay prior to seizure onset (57.1%). Of the unilateral, and asymmetric bilateral groups where <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> was more involved in one hemisphere, the majority (71.4%) of participants had seizures that lateralized to the same hemisphere as the <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> or the hemisphere with greater involvement.</jats:p></jats:sec><jats:sec><jats:title>Significance</jats:title><jats:p>Participants with <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> had both focal and generalized onset of seizures. Our data confirm the involvement of known topographic patterns of <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> and suggest that more extensive distributions of <jats:styled-content style=\"fixed-case\">PMG</jats:styled-content> present with an earlier age of seizure onset and increased prevalence of developmental delay prior to seizure onset.</jats:p></jats:sec>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1382825893534784132","@type":"Researcher","foaf:name":[{"@value":"Catherine Shain"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts U.S.A"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825893534784131","@type":"Researcher","foaf:name":[{"@value":"Sriram Ramgopal"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts U.S.A"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825893534784128","@type":"Researcher","foaf:name":[{"@value":"Zianka Fallil"}],"jpcoar:affiliationName":[{"@value":"Langone Medical Center New York University New York New York U.S.A"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825893534784130","@type":"Researcher","foaf:name":[{"@value":"Isha Parulkar"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts U.S.A"},{"@value":"Warren Alpert Medical School Brown University Providence Rhode Island U.S.A"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825893534784257","@type":"Researcher","foaf:name":[{"@value":"Richard Alongi"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts U.S.A"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825893534784129","@type":"Researcher","foaf:name":[{"@value":"Robert Knowlton"}],"jpcoar:affiliationName":[{"@value":"University of Alabama at Birmingham School of Medicine Birmingham Alabama U.S.A"}]},{"@id":"https://cir.nii.ac.jp/crid/1382825893534784256","@type":"Researcher","foaf:name":[{"@value":"Annapurna Poduri"}],"jpcoar:affiliationName":[{"@value":"Department of Neurology Boston Children's Hospital Harvard Medical School Boston Massachusetts U.S.A"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00139580"},{"@type":"EISSN","@value":"15281167"}],"prism:publicationName":[{"@value":"Epilepsia"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2013-06-10","prism:volume":"54","prism:number":"8","prism:startingPage":"1368","prism:endingPage":"1375"},"reviewed":"false","dc:rights":["http://onlinelibrary.wiley.com/termsAndConditions#vor"],"url":[{"@id":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fepi.12238"},{"@id":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12238"}],"createdAt":"2013-06-10","modifiedAt":"2023-10-03","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360017279867078016","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Subtle infantile spasms presenting as hyperirritability in <scp>CK</scp> syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1360853567579191936","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1111/epi.12238"},{"@type":"CROSSREF","@value":"10.1111/ped.15335_references_DOI_FMBM7ZKqam1uu8iJvh0btPdihAt"},{"@type":"CROSSREF","@value":"10.1093/brain/awz307_references_DOI_FMBM7ZKqam1uu8iJvh0btPdihAt"}]}