Epileptic spasms are a feature of DEPDC5 mTORopathy.

ABSTRACT:

Objective

To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms.

Methods

We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants.

Results

We identified 3 patients with variants in DEPDC5 in the cohort of 130 patients with spasms. We also describe 3 additional patients with DEPDC5 alterations and epileptic spasms: 2 from a previously described family and a third ascertained by clinical testing. Overall, we describe 6 patients from 5 families with spasms and DEPDC5 variants; 2 arose de novo and 3 were familial. Two individuals had focal cortical dysplasia. Clinical outcome was highly variable.

SUBMITTER: Carvill GL 

PROVIDER: S-EPMC4807908 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature