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Lamotrigine induced Brugada-pattern in a patient with genetic epilepsy associated with a novel variant in SCN9A.

拉莫三嗪诱导1例与SCN9A新变异相关的遗传性癫痫患者的Brugada模式。

  • 影响因子:2.60
  • DOI:10.1016/j.gene.2020.144847
  • 作者列表:"Banfi P","Coll M","Oliva A","Alcalde M","Striano P","Mauri M","Princiotta L","Campuzano O","Versino M","Brugada R
  • 发表时间:2020-09-05
Abstract

BACKGROUND:A 30-year-old man presented with intellectual disability associated with epilepsy. The epilepsy was initially treated with sodium valproate and since he was 28 years-old with lamotrigine. With the addition of lamotrigine, a pattern of Brugada syndrome appeared on the electrocardiogram. The family history was positive for epilepsy from the motheŕs side, who had never been treated with lamotrigine. OBJECTIVE:Determine the genetic cause of the intellectual disability, epilepsy and Brugada syndrome of the patient and try to establish a possible correlation between the genetic background and the Brugada syndrome pattern under lamotrigine treatment. METHODS:A standard karyotype, array comparative genomic hybridization and two different NGS panels have done to the index case to identify the genetic causes of the intellectual disability, epilepsy and Brugada syndrome pattern. RESULTS:Genetic analyses in the family identified a de novo duplication of 1.3 Mb in 8p21.3 as well as two novel heterozygous rare variants in SCN9A and AKAP9 genes, both inherited from the mother. CONCLUSION:We hypothesize that in this family the SCN9A variant was responsible for the epileptic syndrome. In addition, given that SCN9A is lightly expressed in the heart tissue, we postulate that this SCN9A variant, alone or in combination with AKAP9 variant, might be responsible for the Brugada pattern when challenged by lamotrigine.

摘要

背景: 一名30岁男性患者出现与癫痫相关的智力障碍。癫痫最初用丙戊酸钠治疗,自28岁开始用拉莫三嗪治疗。随着拉莫三嗪的加入,心电图上出现了Brugada综合征的模式。家族史为癫痫阳性,患者从未接受过拉莫三嗪治疗。 目的: 确定患者智力障碍、癫痫和Brugada综合征的遗传原因,并尝试在拉莫三嗪治疗下建立遗传背景与Brugada综合征模式之间可能的相关性。 方法: 标准核型、阵列比较基因组杂交和两个不同的NGS面板已经对索引病例进行了鉴定智力障碍、癫痫和Brugada综合征模式的遗传原因。 结果: 该家系的遗传分析发现8p21.3中有1.3 Mb的从头重复,SCN9A和AKAP9基因中有两个新的杂合罕见变异,都来自母亲。 结论: 我们假设在这个家族中SCN9A变异是导致癫痫综合征的原因。此外,鉴于SCN9A在心脏组织中轻度表达,我们假设这种SCN9A变体,单独或与AKAP9变体组合,在受到拉莫三嗪挑战时可能是Brugada模式的原因.

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