Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.

ABSTRACT:

Objective

Genetically tractable fruit flies have been used for decades to study seizure disorders. However, there is a paucity of data specifically correlating fly and human seizure phenotypes. We have previously shown that mutation of orthologous PRICKLE genes from flies to humans produce seizures. This study aimed to determine whether the prickle-mediated seizure phenotypes in flies closely parallel the epilepsy syndrome found in PRICKLE patients.

Methods

Virtually all fly seizure studies have relied upon characterizing seizures that are evoked. We have developed two novel approaches to more precisely characterize seizure-related phenotypes in their native state in prickle mutant flies. First, we used high-resolution videography to document spontaneous, unprovoked seizure

SUBMITTER: Ehaideb SN 

PROVIDER: S-EPMC5018582 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature