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Sporadic Hemiplegic Migraine with ATP1A2 and Prothrombin Gene Mutations

机译:偶发性偏瘫偏头痛与ATP1A2和凝血酶原基因突变

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摘要

Background. Hemiplegic migraine is a rare type of migraine that may present in children and adolescents. Both familial and sporadic hemiplegic migraines have similar prevalence and clinical characteristics. Patient. We report an adolescent with sporadic hemiplegic migraine who previously had a similar attack in the past and who was initially evaluated for a possible acute ischemic event. Results. Magnetic resonance angiography showed dilatation of the left middle cerebral artery that resolved in a follow-up study. She was also found to have a ATP1A2 (c.2273 G>C) mutation and a heterozygous prothrombin mutation. Conclusions. We suggest that patients with sporadic hemiplegic migraine be tested for both ATP1A2 mutations which in some cases may be pathogenic, and prothrombin mutations which increase the stroke risk for this patient population.
机译:背景。偏瘫偏头痛是一种罕见的偏头痛,可能会出现在儿童和青少年中。家族性和散发性偏瘫偏头痛具有相似的患病率和临床特征。患者。我们报告了一名青少年散发性偏瘫性偏头痛,该患者过去曾有过类似发作,并且最初被评估为可能的急性缺血性事件。结果。磁共振血管造影显示左大脑中动脉的扩张在后续研究中得以解决。还发现她具有ATP1A2(c.2273 G> C)突变和杂合的凝血酶原突变。结论。我们建议对散发性偏瘫性偏头痛患者进行ATP1A2突变(某些情况下可能是致病性)和凝血酶原突变(这会增加该患者人群的中风风险)的检测。

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