Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

ABSTRACT: Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identified in a patient with infantile spasms. Approximately 50% of patients with PURA-related neurodevelopmental disorders exhibited epilepsy regardless of whether they harbor a 5q31.3 deletion or PURA mutation. Patients with the 5q31.3 deletion or a PURA mutation should be carefully monitored for epileptic seizures.

SUBMITTER: Shimojima K 

PROVIDER: S-EPMC5874397 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature