Clinical spectrum of STX1B-related epileptic disorders.

ABSTRACT:

Objective

The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants.

Methods

We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools.

Results

We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6

SUBMITTER: Wolking S 

PROVIDER: S-EPMC6511102 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature