Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

ABSTRACT:

Objective

Genetic generalized epilepsy (GGE) encompasses seizure disorders characterized by spike-and-wave discharges (SWD) originating within thalamo-cortical circuits. Hyperpolarization-activated (HCN) and T-type Ca²⁺ channels are key modulators of rhythmic activity in these brain regions. Here, we screened HCN4 and CACNA1H genes for potentially contributory variants and provide their functional analysis.

Methods

Targeted gene sequencing was performed in 20 unrelated familial cases with different subtypes of GGE, and the results confirmed in 230 ethnically matching controls. Selected variants in CACNA1H and HCN4 were functionally assessed in tsA201 cells and Xenopus laevis oocytes, respectively.

Results

We discovered a n

SUBMITTER: Becker F 

PROVIDER: S-EPMC5862120 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature