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Roland D Thijs1, Rainer Surges2, Terence J O'Brien3

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概括
此摘要是机器生成的。

是一种常见的脑部疾病, 影响着数以百万计的人, 基因组学和诊断的进步为更好的治疗和潜在的治疗提供了希望.

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科学领域:

  • 神经学
  • 遗传学
  • 病学

背景情况:

  • 全球有超过7千万人患有,
  • 基因组学的进步揭示了的复杂遗传基础,
  • 对于发作和类型出现了新的分类.

研究的目的:

  • 提供当前对的了解.
  • 突出最近的诊断,治疗和未来的治疗策略.
  • 强调作为一种复杂的遗传疾病的演变范式.

主要方法:

  • 对遗传学,诊断和治疗的最新科学文献的审查.
  • 对基因组技术,脑成像和神经调节的进展进行分析.
  • 讨论临床病史,辅助调查和并发症.

主要成果:

  • 是一种具有强烈遗传倾向的复杂症状综合体,
  • 抗发作药物可以控制许多但并非所有患者的发作,并且不会改变长期的预后.
  • 在抗药性焦点中,手术提供了最好的发作自由机会,但未得到充分利用.

结论:

  • 人们对发病的发展,表观遗传学和药物基因组学有了更好的理解,
  • 新技术,如发作检测装置和响应神经刺激提供未来的治疗途径.
  • 综合遗传学,诊断和个性化治疗方法对于治疗至关重要.