Rare variants in the GABA_A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

ABSTRACT:

Background

Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y-aminobutyric acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous system. It regulates activity of channel pores by binding to transmembrane GABA-receptors (GABRs). The GABRs are heteropentamers assembled from different receptor subunits (α1-6, β1-3, γ1-3, δ, ε, θ, π, and ρ1-3). Several epileptic disorders are caused by mutations in genes encoding single GABRs.

Methods

We applied trio- and single-whole exome sequencing to search for genetic sequence variants associated with a wide range of epileptic phenotypes accompanied by intellectual disability and/o

SUBMITTER: Markus F 

PROVIDER: S-EPMC7507344 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature