{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T11:26:59Z","timestamp":1788348419048,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,5,9]],"date-time":"2018-05-09T00:00:00Z","timestamp":1525824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The genetic generalized epilepsies (<jats:styled-content style=\"fixed-case\">GGEs<\/jats:styled-content>) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> leading to autosomal\u2010dominant <jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4\u00a0years. Copy number variants are found in around 3% of cases, acting as risk alleles. Copy number variation is much more common in those with comorbid learning disability. Common variant associations are starting to emerge from genome\u2010wide association studies but do not yet explain a large proportion of <jats:styled-content style=\"fixed-case\">GGE<\/jats:styled-content>s. Although currently genetic testing is not likely to yield a diagnosis for most patients with <jats:styled-content style=\"fixed-case\">GGEs<\/jats:styled-content>, it can be of great importance in specific clinical situations. Providers should consider the individual patient's history in determining the utility of genetic testing.<\/jats:p>","DOI":"10.1111\/epi.14042","type":"journal-article","created":{"date-parts":[[2018,5,9]],"date-time":"2018-05-09T11:43:51Z","timestamp":1525866231000},"page":"1148-1153","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":93,"title":["Genetic generalized epilepsies"],"prefix":"10.1111","volume":"59","author":[{"given":"Saul A.","family":"Mullen","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine Austin Health University of Melbourne Heidelberg Vic. Australia"},{"name":"Florey Institute of Neuroscience and Mental Health Heidelberg Vic. 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