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Updated: Jun 17, 2025

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在奥地利,非多聚氨胺CACNA1A疾病的自然史

Elisabetta Indelicato1, Wolfgang Nachbauer1, Matthias S Amprosi1

  • 1Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

Journal of neurology
|August 7, 2024
PubMed
概括

非多重谷氨胺CACNA1A变种会导致广泛的神经症状. 长期随访显示,间隔预防有效地管理这种罕见遗传性疾病患者的偶发性症状.

关键词:
这就是CACNA1AA.对抗CGRP抗体的抗体插曲性无氧反应 (Episodic ataxia) 是一种半性偏头痛是一种偏头痛.自然历史自然历史的历史.结果测量结果的测量.

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Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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