{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:08:59Z","timestamp":1790860139348,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T00:00:00Z","timestamp":1645142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001505","name":"Health Research Council of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001505","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Epilepsy is common in patients with<jats:italic>PIGN<\/jats:italic>diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of<jats:italic>PIGN<\/jats:italic>encephalopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited patients with epilepsy due to biallelic<jats:italic>PIGN<\/jats:italic>variants and obtained clinical data regarding age at seizure onset\/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Seizure and epilepsy types were classified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty six patients (13 female) from 26 families were identified, with mean age 7\u00a0years (range = 1\u00a0month to 21\u00a0years; three deceased). Abnormal development at seizure onset was present in 25 of 26. Developmental outcome was most frequently profound (14\/26) or severe (11\/26). Patients presented with focal motor (12\/26), unknown onset motor (5\/26), focal impaired awareness (1\/26), absence (2\/26), myoclonic (2\/26), myoclonic\u2013atonic (1\/26), and generalized tonic\u2013clonic (2\/26) seizures. Twenty of 26 were classified as developmental and epileptic encephalopathy (DEE): 55% (11\/20) focal DEE, 30% (6\/20) generalized DEE, and 15% (3\/20) combined DEE. Six had intellectual disability and epilepsy (ID+E): two\u00a0generalized and four focal epilepsy. Mean age at seizure onset was 13\u00a0months (birth to 10\u00a0years), with a lower mean onset in DEE (7\u00a0months) compared with ID+E (33\u00a0months). Patients with DEE had drug\u2010resistant epilepsy, compared to 4\/6 ID+E patients, who were seizure\u2010free. Hyperkinetic movement disorder occurred in 13 of 26 patients. Twenty\u2010seven of 34 variants were novel. Variants were truncating (<jats:italic>n<\/jats:italic>= 7), intronic and predicted to affect splicing (<jats:italic>n<\/jats:italic>= 7), and missense or inframe indels (<jats:italic>n<\/jats:italic>= 20, of which 11 were predicted to affect splicing). Seven variants were recurrent, including p.Leu311Trp in 10 unrelated patients, nine with generalized seizures, accounting for nine of the 11 patients in this cohort with generalized seizures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p><jats:italic>PIGN<\/jats:italic>encephalopathy is a complex autosomal recessive disorder associated with a wide spectrum of epilepsy phenotypes, typically with substantial profound to severe developmental impairment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.17173","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T10:32:00Z","timestamp":1645180320000},"page":"974-991","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<i>PIGN<\/i>encephalopathy: Characterizing the epileptology"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4986-8006","authenticated-orcid":false,"given":"Allan","family":"Bayat","sequence":"first","affiliation":[{"name":"Institute for Regional Health Services University of Southern Denmark Odense Denmark"},{"name":"Department of Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6242-4306","authenticated-orcid":false,"given":"Guillem","family":"de Valles\u2010Ib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Child Health University of Otago Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Pendziwiat","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Medical Center Schleswig\u2010Holstein, Christian Albrecht University Kiel 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