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Updated: Aug 12, 2026

3D-Neuronavigation In Vivo Through a Patient's Brain During a Spontaneous Migraine Headache
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在葡萄牙的一名半性偏头痛患者中发现的新型PRRT2变异的功能特征

Andreia Dias1,2, Mariana Santos1, Estefânia Carvalho1,2

  • 1UnIGENe, IBMC - Instituto de Biologia Celular e Molecular, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

Clinical genetics
|May 27, 2023
PubMed
概括

一种新的PRRT2基因变异与葡萄牙患者的家族性半性偏头痛 (FHM) 有关. 这一发现表明PRRT2应该在FHM遗传诊断中考虑.

关键词:
PRRT2 是一个 PRRT2 的类型.外基因组测序是指外基因组的测序.功能性研究是指功能性研究.这是一种半性偏头痛.错误的意义的变体

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...