儿童早期42型癫痫脑病与CaCNA1a钙通道新突变和Brugada综合征与SCN5A钠通道突变相关

Q4 Medicine

Neurologia Argentina Pub Date : 2023-07-01 DOI:10.1016/j.neuarg.2022.12.005

Camila Aguirre , Nora Estela Grañana , Mónica Beatriz Perassolo

{"title":"儿童早期42型癫痫脑病与CaCNA1a钙通道新突变和Brugada综合征与SCN5A钠通道突变相关","authors":"Camila Aguirre , Nora Estela Grañana , Mónica Beatriz Perassolo","doi":"10.1016/j.neuarg.2022.12.005","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction</h3><p>Epileptic encephalopathies in infants, of genetic origin, manifest in the first two years of life. The peculiarity of this picture is the refractoriness to treatment with usual antiepileptic drugs and the presence of normal neuroimaging, metabolic studies and conventional karyotypes.</p></div><div><h3>Clinical case</h3><p>Our objective is the description of a 5-year-old patient diagnosed with early childhood epileptic encephalopathy type 42, associated with a de novo mutation of the calcium channel CACNA1A. In the same determination, the patient presented a mutation of the sodium channel SCNSA associated with Brugada syndrome.</p></div><div><h3>Conclusion</h3><p>In conclusion, the interaction between both genetic syndromes complicated the pharmacological decision.</p></div>","PeriodicalId":39051,"journal":{"name":"Neurologia Argentina","volume":"15 3","pages":"Pages 211-215"},"PeriodicalIF":0.0000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Encefalopatía epiléptica infantil temprana tipo 42 asociada a mutación de novo del canal de calcio CACNA1A y síndrome de Brugada asociado a mutación del canal de sodio SCN5A\",\"authors\":\"Camila Aguirre , Nora Estela Grañana , Mónica Beatriz Perassolo\",\"doi\":\"10.1016/j.neuarg.2022.12.005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Introduction</h3><p>Epileptic encephalopathies in infants, of genetic origin, manifest in the first two years of life. The peculiarity of this picture is the refractoriness to treatment with usual antiepileptic drugs and the presence of normal neuroimaging, metabolic studies and conventional karyotypes.</p></div><div><h3>Clinical case</h3><p>Our objective is the description of a 5-year-old patient diagnosed with early childhood epileptic encephalopathy type 42, associated with a de novo mutation of the calcium channel CACNA1A. In the same determination, the patient presented a mutation of the sodium channel SCNSA associated with Brugada syndrome.</p></div><div><h3>Conclusion</h3><p>In conclusion, the interaction between both genetic syndromes complicated the pharmacological decision.</p></div>\",\"PeriodicalId\":39051,\"journal\":{\"name\":\"Neurologia Argentina\",\"volume\":\"15 3\",\"pages\":\"Pages 211-215\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurologia Argentina\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1853002823000046\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurologia Argentina","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1853002823000046","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

婴儿癫痫性脑病，遗传原因，表现在生命的头两年。该图的特点是常规抗癫痫药物治疗的难治性，以及正常神经影像学、代谢研究和常规核型的存在。临床病例:我们的目的是描述一名5岁的早期儿童癫痫性脑病42型患者，与钙通道CACNA1A的新生突变相关。在同样的检测中，患者出现了与Brugada综合征相关的钠通道SCNSA突变。结论两种遗传综合征之间的相互作用使药物决策复杂化。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Encefalopatía epiléptica infantil temprana tipo 42 asociada a mutación de novo del canal de calcio CACNA1A y síndrome de Brugada asociado a mutación del canal de sodio SCN5A

Introduction

Epileptic encephalopathies in infants, of genetic origin, manifest in the first two years of life. The peculiarity of this picture is the refractoriness to treatment with usual antiepileptic drugs and the presence of normal neuroimaging, metabolic studies and conventional karyotypes.

Clinical case

Our objective is the description of a 5-year-old patient diagnosed with early childhood epileptic encephalopathy type 42, associated with a de novo mutation of the calcium channel CACNA1A. In the same determination, the patient presented a mutation of the sodium channel SCNSA associated with Brugada syndrome.

Conclusion

In conclusion, the interaction between both genetic syndromes complicated the pharmacological decision.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Neurologia Argentina Medicine-Neurology (clinical)

CiteScore

0.50

自引率

0.00%

发文量

期刊介绍： Neurología Argentina es la publicación oficial de la Sociedad Neurológica Argentina. Todos los artículos, publicados en español, son sometidos a un proceso de revisión sobre ciego por pares con la finalidad de ofrecer información original, relevante y de alta calidad que abarca todos los aspectos de la Neurología y la Neurociencia.