INFANTILE CONVULSIONS AND CHOREOATHETOSIS (ICCA) SYNDROME WITH PRRT2 MUTATION-A CASE REPORT

Abstract

Infantile convulsions and choreoathetosis (ICCA) syndrome is a rare autosomal dominant disorder characterised by convulsions during infancy with paroxysmal choreoathetosis at a later age. Mutations in proline rich transmembrane protein 2 (PRRT2) gene have been identified as a cause for ICCA syndrome. Carbamazepine or phenytoin is effective in preventing seizure recurrence and controlling dyskinesias. Here, we report a child with ICCA syndrome with homozygous mutation in PRRT2 gene.