Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
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DOI：
10.1111/j.1469-8749.2012.04394.x
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发表时间：
2012-10-01
影响因子：
3.8
通讯作者：
Houlden, Henry
中科院分区：
文献类型：
--
作者：
Dale, Russell C.;Gardiner, Alice;Houlden, Henry
PRRT 2是最近与阵发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婴儿惊厥相关的基因。我们报告了四个家族成员与PRRT2突变谁有异质性阵发性疾病。索引患者有短暂的婴儿阵发性斜颈，然后良性婴儿癫痫，对卡马西平有反应。索引患者的父亲有PKD和偏头痛失语症，他的两个兄弟有偏瘫偏头痛发作的儿童。所有四个家族成员具有相同的PRRT 2 c.649dupC突变。我们的结论是，异质性发作性疾病与PRRT2突变相关，包括阵发性斜颈和偏瘫性偏头痛。我们认为PRRT2是一个新的偏头痛发病基因。
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 patients 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.