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首页> 外文期刊>Frontiers in Cellular Neuroscience >The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine
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The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine

机译:偏头痛遗传学的革命:从疼痛通道疾病到下一代医学

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Channelopathies are a heterogeneous group of neurological disorders resulting from dysfunction of ion channels located in cell membranes and organelles. The clinical scenario is broad and symptoms such as generalized epilepsy (with or without fever), migraine (with or without aura), episodic ataxia and periodic muscle paralysis are some of the best known consequences of gain- or loss-of-function mutations in ion channels. We review the main clinical effects of ion channel mutations associated with a significant impact on migraine headache. Given the increasing and evolving use of genetic analysis in migraine research—greater emphasis is now placed on genetic markers of dysfunctional biological systems—we also show how novel information in rare monogenic forms of migraine might help to clarify the disease mechanisms in the general population of migraineurs. Next-generation sequencing (NGS) and more accurate and precise phenotyping strategies are expected to further increase understanding of migraine pathophysiology and genetics.
机译:通道病是由位于细胞膜和细胞器中的离子通道功能异常导致的一组神经系统疾病。临床情况广泛,症状包括全身性癫痫(伴有或不伴发烧),偏头痛(伴或不伴有先兆),发作性共济失调和周期性肌肉麻痹是获得性功能丧失或突变的最著名的后果。离子通道。我们回顾了与偏头痛相关的重大影响相关的离子通道突变的主要临床效果。鉴于偏头痛研究中越来越多地使用遗传分析技术(现在更加重视功能失调的生物系统的遗传标记),我们还展示了偏头痛的罕见单基因形式的新颖信息如何有助于阐明普通人群的疾病机制。偏头痛的人。下一代测序(NGS)和更准确,更精确的表型分析策略有望进一步增进对偏头痛病理生理学和遗传学的了解。

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