The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.

Abstract excerpt

PURPOSE: Mutations in the PRRT2 gene have been recently described as a cause of paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome and, less often, infantile convulsions. We have analysed the frequency of PRRT2 mutations in families with benign familial infantile convulsions without paroxysmal kinesigenic dyskinesia. METHODS AND RESULTS: Direct sequencing of the coding region...

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