与新型从头 missense ATP1A2 基因突变相关的持续性散发性偏瘫性偏头痛。
Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.
机构信息
From the Department of Pediatrics, University of Chieti, Chieti, Italy (S. De Sanctis, L. Breda, M. Nozzi, M. Del Torto, F. Chiarelli, and A. Verrotti); Laboratory of Neurogenetics, IRCCS National Neurological Institute "C. Mondino," Pavia, Italy (G.S. Grieco); Department of Neurology and ORL, Sapienza University of Rome-Polo Pontino, Latina, Italy (C. Casali).
出版信息
Headache. 2011 Mar;51(3):447-450. doi: 10.1111/j.1526-4610.2010.01793.x. Epub 2010 Nov 4.
Hemiplegic migraine is a rare form of migraine characterized by periodic attacks of migraine with neurologic aura and transient hemiplegia. There are familial and sporadic cases, both on a genetic basis; we describe the case of a 6-year-old boy affected by sporadic hemiplegic migraine, showing a novel ATP1A2 gene missense mutation (p.Gly715Arg) in exon 16. Long-term treatment with flunarizine resulted in good clinical response and prevention of further attacks.
偏瘫性偏头痛是一种罕见的偏头痛形式，其特征为周期性偏头痛伴神经症状和短暂性偏瘫发作。该病有家族性和散发性病例，均基于遗传基础；我们描述了一例 6 岁散发性偏瘫性偏头痛男孩的病例，该男孩在第 16 外显子中存在 ATP1A2 基因突变（p.Gly715Arg）。长期氟桂利嗪治疗可获得良好的临床反应和预防进一步发作。
Zotero 插件