Movement Disorder Clinic, Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, NSW, Australia.
Dev Med Child Neurol. 2012 Oct;54(10):958-60. doi: 10.1111/j.1469-8749.2012.04394.x. Epub 2012 Jul 31.
PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine. The index patient's father had PKD and migraine with aphasia, and his two brothers had hemiplegic migraine with onset in childhood. All four family members had the same PRRT2 c.649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with PRRT2 mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that PRRT2 is a new gene for hemiplegic migraine.
PRRT2 是最近与发作性运动诱发性运动障碍（PKD）、良性家族性婴儿癫痫和舞蹈手足徐动症性癫痫相关的基因。我们报告了 4 名携带 PRRT2 突变的家族成员，他们患有异质性阵发性疾病。索引患者有短暂的婴儿发作性斜颈，然后是对卡马西平有反应的良性婴儿癫痫。索引患者的父亲患有 PKD 和偏头痛伴失语症，他的两个兄弟患有儿童期发病的偏瘫性偏头痛。这 4 名家族成员都有相同的 PRRT2 c.649dupC 突变。我们得出结论，异质性阵发性疾病与 PRRT2 突变有关，包括发作性斜颈和偏瘫性偏头痛。我们提出 PRRT2 是偏瘫性偏头痛的一个新基因。
