Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

ABSTRACT:

Objective

The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy.

Methods

Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Computer modeling was used to assess changes on protein folding.

Results

Biallelic pathogenic variants in QARS cause a triad of progressive microcephaly, moderate to severe developmental delay, and early-onset epilepsy. Microcephaly was present at birth in 65%, a

SUBMITTER: Johannesen KM 

PROVIDER: S-EPMC6927360 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature