{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T16:01:16Z","timestamp":1761580876726},"reference-count":34,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2011,4,19]],"date-time":"2011-04-19T00:00:00Z","timestamp":1303171200000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:p>Before the advent of molecular genetics, the nature of Dravet syndrome remained largely obscure, and arguments in favour of either an acquired origin, such as the occurrence of Dravet syndrome after vaccination, or an inherited origin, such as the occurrence of epilepsy in relatives, were formulated. In 2001 we demonstrated that the majority of Dravet patients have a genetic cause due to loss\u2010of\u2010function mutations in the <jats:italic>SCN1A<\/jats:italic> gene. Understandably, since this syndrome severely affects reproductive fitness, these mutations almost exclusively arise <jats:italic>de novo<\/jats:italic>, with the rare exceptions of mosaic mutations in a non\u2010affected transmitting parent. Besides classical Sanger sequencing, mutation analysis of the <jats:italic>SCN1A<\/jats:italic> gene also requires a method that allows the detection of genomic rearrangements (MAQ, MLPA), since microdeletions or whole gene deletions also result in Dravet syndromes. Depending on the series reported and their recruitment strategies, the yield of <jats:italic>SCN1A<\/jats:italic> mutations detected varied from 50 to 80%, implying that other genes or factors must be involved in these \u2018<jats:italic>SCN1A<\/jats:italic>\u2010negative Dravet patients\u2019. Recently mutations in some other genes have been described in these genuine Dravet patients who do not carry an <jats:italic>SCN1A<\/jats:italic> mutation. The second most important Dravet\u2010associated gene is <jats:italic>PCDH19<\/jats:italic>.These patients initially may have all characteristics of Dravet syndrome but may later run a somewhat different course.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.03965.x","type":"journal-article","created":{"date-parts":[[2011,4,19]],"date-time":"2011-04-19T13:07:16Z","timestamp":1303218436000},"page":"7-10","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Molecular genetics of Dravet syndrome"],"prefix":"10.1111","volume":"53","author":[{"given":"PETER","family":"DE JONGHE","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,4,19]]},"reference":[{"key":"e_1_2_11_2_2","unstructured":"DravetC.Dravet\u2019s syndrome (severe myoclonic epilepsy of infancy).http:\/\/www.ilae\u2010epilepsy.org\/Visitors\/Centre\/ctf\/dravet.html. 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