{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T04:19:14Z","timestamp":1789100354175,"version":"build-2803163510"},"reference-count":217,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010792","name":"Tungs\u2019 Taichung MetroHarbor Hospital","doi-asserted-by":"publisher","award":["TTMHH-R1120001"],"award-info":[{"award-number":["TTMHH-R1120001"]}],"id":[{"id":"10.13039\/100010792","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010792","name":"Tungs\u2019 Taichung MetroHarbor Hospital","doi-asserted-by":"publisher","award":["TTMHH-C1120007"],"award-info":[{"award-number":["TTMHH-C1120007"]}],"id":[{"id":"10.13039\/100010792","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010792","name":"Tungs\u2019 Taichung MetroHarbor Hospital","doi-asserted-by":"publisher","award":["TTMHH-R1120001"],"award-info":[{"award-number":["TTMHH-R1120001"]}],"id":[{"id":"10.13039\/100010792","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010792","name":"Tungs\u2019 Taichung MetroHarbor Hospital","doi-asserted-by":"publisher","award":["TTMHH-C1120007"],"award-info":[{"award-number":["TTMHH-C1120007"]}],"id":[{"id":"10.13039\/100010792","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy, is a rare and drug-resistant form of developmental and epileptic encephalopathies, which is both debilitating and challenging to manage, typically arising during the first year of life, with seizures often triggered by fever, infections, or vaccinations. It is characterized by frequent and prolonged seizures, developmental delays, and various other neurological and behavioral impairments. Most cases result from pathogenic mutations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene, which encodes a critical voltage-gated sodium channel subunit involved in neuronal excitability. Precision medicine offers significant potential for improving DS diagnosis and treatment. Early genetic testing enables timely and accurate diagnosis. Advances in our understanding of DS\u2019s underlying genetic mechanisms and neurobiology have enabled the development of targeted therapies, such as gene therapy, offering more effective and less invasive treatment options for patients with DS. Targeted and gene therapies provide hope for more effective and personalized treatments. However, research into novel approaches remains in its early stages, and their clinical application remains to be seen. This review addresses the current understanding of clinical DS features, genetic involvement in DS development, and outcomes of novel DS therapies.<\/jats:p>","DOI":"10.3390\/ijms25010031","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T06:03:11Z","timestamp":1702965791000},"page":"31","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3485-7558","authenticated-orcid":false,"given":"Hueng-Chuen","family":"Fan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tungs\u2019 Taichung Metroharbor Hospital, Wuchi, Taichung 435, Taiwan"},{"name":"Department of Rehabilitation, Jen-Teh Junior College of Medicine, Nursing and Management, Miaoli 356, Taiwan"},{"name":"Department of Life Sciences, Agricultural Biotechnology Center, National Chung Hsing University, Taichung 402, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5235-6912","authenticated-orcid":false,"given":"Ming-Tao","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 220, Taiwan"},{"name":"Department of Chemical Engineering and Materials Science, Yuan Ze University, Taoyuan 320, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lung-Chang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan"},{"name":"Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 807, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9309-0118","authenticated-orcid":false,"given":"Kuo-Liang","family":"Chiang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Kuang-Tien General Hospital, Taichung 433, Taiwan"},{"name":"Department of Nutrition, Hungkuang University, Taichung 433, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2461-9150","authenticated-orcid":false,"given":"Chuan-Mu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, Agricultural Biotechnology Center, National Chung Hsing University, Taichung 402, Taiwan"},{"name":"The iEGG and Animal Biotechnology Center, and Rong Hsing Research Center for Translational Medicine, National Chung Hsing University, Taichung 402, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1528-1167.2010.02522.x","article-title":"Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005\u20132009","volume":"51","author":"Berg","year":"2010","journal-title":"Epilepsia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1046\/j.1528-1157.2001.10401.x","article-title":"A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology","volume":"42","author":"Engel","year":"2001","journal-title":"Epilepsia"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ejpn.2019.12.023","article-title":"Deciphering the concepts behind \u201cEpileptic encephalopathy\u201d and \u201cDevelopmental and epileptic encephalopathy\u201d","volume":"24","author":"Scheffer","year":"2020","journal-title":"Eur. 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