{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T12:42:46Z","timestamp":1788093766588,"version":"build-2803163510"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,20]],"date-time":"2023-02-20T00:00:00Z","timestamp":1676851200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Self\u2010limited infantile epilepsy (SeLIE) has distinctive clinical features, and the <jats:italic>PRRT2<\/jats:italic> gene is known to be a considerable genetic cause. There have been a few studies on <jats:italic>PRRT2<\/jats:italic>\u2010positive SeLIE only, and anti\u2010seizure medications are often required due to frequent seizures at initial seizure onset. This study aimed to provide clinical information for the early recognition of patients with <jats:italic>PRRT2<\/jats:italic>\u2010positive SeLIE and to propose effective anti\u2010seizure medications for seizure control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively reviewed 36 patients diagnosed with SeLIE with genetically confirmed pathogenic variants of <jats:italic>PRRT2<\/jats:italic>. In addition, six atypical cases with neonatal\u2010onset seizures and unremitting after 3\u2009years of age were included to understand the expanded clinical spectrum of <jats:italic>PRRT2<\/jats:italic>\u2010related epilepsy. We analyzed the initial presentation, clinical course, and seizure control response to anti\u2010seizure medications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with <jats:italic>PRRT2<\/jats:italic>\u2010related epilepsy had characteristic seizure semiology at the initial presentation, including all afebrile, clustered (n\u00a0=\u00a023, 63.9%), short\u2010duration (n\u00a0=\u00a033, 91.7%), and bilateral tonic\u2013clonic seizures (n\u00a0=\u00a026, 72.2%). Genetic analysis revealed that c. 649dupC was the most common variant, and six patients had a 16p11.2 microdeletion containing the <jats:italic>PRRT2<\/jats:italic> gene. One\u2010third of the patients were sporadic cases without a family history of epilepsy or paroxysmal movement disorders. In the 33 patients treated with anti\u2010seizure medications, sodium channel blockers, such as carbamazepine, were the most effective in seizure control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Our results delineated the clinical characteristics of <jats:italic>PRRT2<\/jats:italic>\u2010positive SeLIE, differentiating it from other genetic infantile epilepsies and discovered the effective anti\u2010seizure medications for initial clustered seizure control. If afebrile bilateral tonic\u2013clonic seizures develop in a normally developed infant as a clustered pattern, <jats:italic>PRRT2<\/jats:italic>\u2010positive SeLIE should be considered as a possible diagnosis, and sodium channel blockers should be administered as the first medication for seizure control.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12708","type":"journal-article","created":{"date-parts":[[2023,2,13]],"date-time":"2023-02-13T04:39:22Z","timestamp":1676263162000},"page":"436-443","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["<scp><i>PRRT2<\/i><\/scp>\u2010positive self\u2010limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8456-684X","authenticated-orcid":false,"given":"Jiwon","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Ok","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chonnam National University Medical School  Gwangju South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung Chan","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeehun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South 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