PRRT2Mutations are the major cause of benign familial infantile seizures

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Mutations inPRRT2have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzedPRRT2in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not showPRRT2mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishesPRRT2as the major gene for BFIS alone.

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