Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.

ABSTRACT:

Background

The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2-related developmental and epileptic encephalopathies (DEEs) were reviewed aiming to expand knowledge of the genotype and phenotype of SZT2 mutations.

Methods

Targeted next-generation sequencing was performed to identify pathogenic mutations in 205 cases with DEEs of unknown etiology. Detailed clinical and genetic data were collected from SZT2-associated patients.

Results

Four novel mutations were found (c.1626 + 1G>A, c.5772dupA, c.4209C > A, c.7307_7308insG) in three patients. All the variants were inherited from their parents. Two patients were siblings and harbo

SUBMITTER: Sun X 

PROVIDER: S-EPMC6732301 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature