Patients with epilepsy and inherited 16p11.2 microdeletions encompassing PRRT2 gene: three case
Clinical Case, 49 - 53Tag this article
16p11.2 rearrangements. A particular feature of these seizures is that they usually remit within the second year of life. Here we report three patients carrying almost overlapping 0,525 Mb microdeletions that encompass PRRT2 gene. Given the characteristic epileptic features of these patients, we hypothesize that PRRT2 haploinsufficiency is the genetic etiology of infantile epilepsy in the 16p11.2 microdeletions reported. Furthermore, 16p11.2 microdeletions encompass a wider spectrum of conditions that can emerge over time and that need to be addressed, early in infancy as well as in adolescence.
KEY WORDS: infantile seizures, genetics, PRRT2.