期刊
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
卷 54, 期 10, 页码 958-960出版社
WILEY
DOI: 10.1111/j.1469-8749.2012.04394.x
关键词
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资金
- Medical Research Council
- Wellcome Trust
- Muscular Dystrophy Campaign
- MRC [G1001253, G0802760, G108/638] Funding Source: UKRI
- Medical Research Council [G108/638, G0802760, G1001253] Funding Source: researchfish
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.
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