Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, University of Trieste, Trieste, Italy.
Pediatr Neurol. 2012 Aug;47(2):133-6. doi: 10.1016/j.pediatrneurol.2012.04.012.
Hemiplegic migraine constitutes an unusual form, characterized by periodic attacks of migraine with a motor component (hemiplegia). Familial forms are dominantly inherited, and are attributable to mutations in genes encoding proteins involved in ion transportation, including ATP1A2, which codes for the α-2 isoform of the sodium-potassium adenosine triphosphatase, a P-type cation transport adenosine triphosphatase, and responsible for the so-called familial hemiplegic migraine type 2. We describe a 9-year-old boy affected by familial hemiplegic migraine, with a novel ATP1A2 gene mutation (c.1799T>C p.V600A) in exon 13. Long-term treatment with flunarizine resulted in a good clinical response and the prevention of further attacks.
偏瘫性偏头痛是一种不常见的形式，其特征为周期性偏头痛发作伴运动成分（偏瘫）。家族性形式主要为显性遗传，归因于编码参与离子转运的蛋白的基因突变，包括 ATP1A2，其编码钠钾三磷酸腺苷的α-2 同工型，一种 P 型阳离子转运三磷酸腺苷，负责所谓的家族性偏瘫性偏头痛 2 型。我们描述了一例 9 岁男孩患家族性偏瘫性偏头痛，其 13 号外显子中存在 ATP1A2 基因突变（c.1799T>C p.V600A）。长期氟桂利嗪治疗可获得良好的临床反应并预防进一步发作。
