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家族性偏瘫性偏头痛病例回顾：一名孕妇的成功治疗结果

Review of familial hemiplegic migraine, successful outcome in a pregnant patient.

作者信息

Monseur Brent C, Anastasio Hannah B, Haddad Andrew, Al-Kouatly Huda B

机构信息

Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University Philadelphia Pennsylvania.

Division of Maternal Fetal Medicine Department of Obstetrics and Gynecology Sidney Kimmel Medical College of Thomas Jefferson University Philadelphia Pennsylvania.

出版信息

Clin Case Rep. 2019 Nov 15;7(12):2495-2499. doi: 10.1002/ccr3.2513. eCollection 2019 Dec.

DOI:10.1002/ccr3.2513
PMID:31893087
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6935667/
Abstract

As the field of neurogenetics is expanding rapidly and variant classification criteria evolve, genetic variants in databases are re-evaluated overtime allowing updated classifications of pathogenicity predication. When caring for patients with genetic disorders, it is important to obtain the original genetic report and also consider an updated reanalysis.

摘要

随着神经遗传学领域的迅速扩展以及变异分类标准的不断演变，数据库中的基因变异会随着时间的推移被重新评估，从而实现致病性预测的更新分类。在护理患有遗传疾病的患者时，获取原始基因报告并考虑进行更新的重新分析非常重要。