{"title":"新生儿发育性和癫痫性脑病伴运动障碍和关节畸形：一例SCN1A新错义变体病例报告","authors":"Yukimune Okubo , Moriei Shibuya , Haruhiko Nakamura , Aritomo Kawashima , Kaori Kodama , Wakaba Endo , Takehiko Inui , Noriko Togashi , Yu Aihara , Matsuyuki Shirota , Ryo Funayama , Tetsuya Niihori , Atsushi Fujita , Keiko Nakayama , Yoko Aoki , Naomichi Matsumoto , Shigeo Kure , Atsuo Kikuchi , Kazuhiro Haginoya","doi":"10.1016/j.braindev.2023.06.009","DOIUrl":null,"url":null,"abstract":"<div><p>Variants of <em>SCN1A</em><span><span> represent the archetypal channelopathy<span> associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from </span></span>Dravet syndrome.</span></p></div><div><h3>Case report</h3><p>We present a female patient with the <em>de novo SCN1A</em> missense variant, c.5340G > A (p. Met1780Ile). The patient had various clinical features with neonatal onset <em>SCN1A</em><span><span> epileptic encephalopathy, arthrogryposis multiplex congenita, thoracic </span>hypoplasia<span>, thoracic scoliosis<span>, and hyperekplexia.</span></span></span></p></div><div><h3>Conclusion</h3><p>Our findings are compatible with neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis; the most severe phenotype probably caused by gain-of-function variant of <em>SCN1A</em><span>. The efficacy of sodium channel blocker was also discussed. Further exploration of the phenotype–genotype relationship of </span><em>SCN1A</em> variants may lead to better pharmacological treatments and family guidance.</p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A\",\"authors\":\"Yukimune Okubo , Moriei Shibuya , Haruhiko Nakamura , Aritomo Kawashima , Kaori Kodama , Wakaba Endo , Takehiko Inui , Noriko Togashi , Yu Aihara , Matsuyuki Shirota , Ryo Funayama , Tetsuya Niihori , Atsushi Fujita , Keiko Nakayama , Yoko Aoki , Naomichi Matsumoto , Shigeo Kure , Atsuo Kikuchi , Kazuhiro Haginoya\",\"doi\":\"10.1016/j.braindev.2023.06.009\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Variants of <em>SCN1A</em><span><span> represent the archetypal channelopathy<span> associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from </span></span>Dravet syndrome.</span></p></div><div><h3>Case report</h3><p>We present a female patient with the <em>de novo SCN1A</em> missense variant, c.5340G > A (p. Met1780Ile). The patient had various clinical features with neonatal onset <em>SCN1A</em><span><span> epileptic encephalopathy, arthrogryposis multiplex congenita, thoracic </span>hypoplasia<span>, thoracic scoliosis<span>, and hyperekplexia.</span></span></span></p></div><div><h3>Conclusion</h3><p>Our findings are compatible with neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis; the most severe phenotype probably caused by gain-of-function variant of <em>SCN1A</em><span>. The efficacy of sodium channel blocker was also discussed. Further exploration of the phenotype–genotype relationship of </span><em>SCN1A</em> variants may lead to better pharmacological treatments and family guidance.</p></div>\",\"PeriodicalId\":56137,\"journal\":{\"name\":\"Brain & Development\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brain & Development\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0387760423001109\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain & Development","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0387760423001109","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
Variants of SCN1A represent the archetypal channelopathy associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from Dravet syndrome.
Case report
We present a female patient with the de novo SCN1A missense variant, c.5340G > A (p. Met1780Ile). The patient had various clinical features with neonatal onset SCN1A epileptic encephalopathy, arthrogryposis multiplex congenita, thoracic hypoplasia, thoracic scoliosis, and hyperekplexia.
Conclusion
Our findings are compatible with neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis; the most severe phenotype probably caused by gain-of-function variant of SCN1A. The efficacy of sodium channel blocker was also discussed. Further exploration of the phenotype–genotype relationship of SCN1A variants may lead to better pharmacological treatments and family guidance.
期刊介绍：
Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience.
The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.
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