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This issue of Neurology® contains several articles on a single topic: paroxysmal disorders associated with mutations in the PRRT2 gene.1–6 PRRT2 mutations can cause infantile convulsions, paroxysmal dyskinesia, migraine, hemiplegic migraine, or episodic ataxia alone or in various combinations. Co-occurrence of epilepsy and paroxysmal motor disorders is generally rare, and traditionally the question has been one of differential diagnosis.7 Although epilepsy and paroxysmal dyskinesia have been described occasionally in the same individual or aggregated within families, it was not until the familial infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome was described and assigned genomic linkage that their consistent association was recognized8; within the past year, the PRRT2 gene was identified as the causative gene.9,10
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- © 2012 American Academy of Neurology
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