{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:39:51Z","timestamp":1791301191923,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,6,28]],"date-time":"2013-06-28T00:00:00Z","timestamp":1372377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Folkh\u00e4lsan Research Foundation"},{"name":"Academy of Finland Center of Excellence of Complex Disease Genetics","award":["213506"],"award-info":[{"award-number":["213506"]}]},{"name":"Pediatric Research, and Arvo"},{"name":"Lea Ylpp\u00f6 Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">PCHD<\/jats:styled-content>19<\/jats:italic> mutations. Although Dravet syndrome is well recognized, the causes of acute encephalopathy are still elusive, and reported data on ictal electroencephalography (<jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content>) and structural brain abnormalities are scarce.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied 30 children who fulfilled the clinical criteria for Dravet syndrome. All patients were screened for <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> mutations and 25 for <jats:italic><jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content><\/jats:italic> mutations with bidirectional sequencing. Clinical data, including etiologic studies done as part of the clinical workup, were collected from hospital charts. Ictal video\u2010<jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> recordings and magnetic resonance (<jats:styled-content style=\"fixed-case\">MR<\/jats:styled-content>) images were reanalyzed by the authors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Key Findings<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> mutations were found in 25 patients (83%). Two <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> mutation\u2013negative patients had chromosomal translocations involving chromosomes 9 and X, and one had a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">PCDH<\/jats:styled-content>19<\/jats:italic>. Prolonged seizures were associated with acute encephalopathy in three <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> mutation\u2013positive patients. One showed evidence of a significant hypoxic\u2013ischemic event during status epilepticus. The other two demonstrated new persistent neurologic deficits postictally; they both carried heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content><\/jats:italic> variants (p.Trp748Ser or p.Gly517Val). Hippocampal sclerosis or loss of gray\u2013white matter definition in the temporal lobe was observed in 7 of 18 patients who had <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> after age 3\u00a0years (39%). Motor seizures were recorded on video\u2010<jats:styled-content style=\"fixed-case\">EEG<\/jats:styled-content> for 15 patients, of whom 12 were younger than 6\u00a0years at recording; 11 patients (73%) showed posterior onsets.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Our data imply that a heterozygous X;9 translocation and rare <jats:italic><jats:styled-content style=\"fixed-case\">POLG<\/jats:styled-content><\/jats:italic> variants may modify the clinical features of Dravet syndrome. The latter may increase susceptibility for acute encephalopathy. Temporal lobe abnormalities are common in patients imaged after 3\u00a0years of age. Focal seizures seem to localize predominantly in the posterior regions in young children with Dravet syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.12256","type":"journal-article","created":{"date-parts":[[2013,6,28]],"date-time":"2013-06-28T12:42:54Z","timestamp":1372423374000},"page":"1577-1585","source":"Crossref","is-referenced-by-count":53,"title":["Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings"],"prefix":"10.1111","volume":"54","author":[{"given":"Eija","family":"Gaily","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Helsinki University Central Hospital Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna\u2010Kaisa","family":"Anttonen","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Institute of Genetics Helsinki Finland"},{"name":"Department of Medical Genetics Haartman Institute and Research Program's Unit Molecular Neurology and Neuroscience 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