Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

Benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are two distinct neurological disorders that have been thought to have the same genetic basis, since the two disorders are sometimes seen together as Infantile Convulsions and Choreoathetosis (ICCA) syndrome and have each been mapped to the same region of the genome. The gene for these disorders, PRRT2, was identified in 2011. Despite the relatively recent association of PRRT2 with BFIE, ICCA and PKD, more than 300 families and patients with mutations have already been described. In this review, we discuss the spectrum of mutations reported in this gene, the associated disorders and the current data regarding the biological role of the PRRT2 protein. (By Dr. Sarah Heron, http://jmg.bmj.com/content/early/2013/01/22/jmedgenet-2012-101406 )