Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model.

ABSTRACT:

Background

Genetic epilepsy with febrile seizures plus (GEFS+) is a type of epileptic syndrome closely related to heredity factors, which can be caused by gene mutations. However, it still remains unclear how these mutations result in seizures. Previously, we identified a new heterozygous missense mutation of the KCNAB3 gene, H258R, in the GEFS+ family; the electric currents of the human embryonic kidney 293 (HEK293) cells co-expressing Kvβ3 (H258R) and Kv1.1 showed obvious inactivation. This study sought to examine the effects of this mutation on the potassium channels in the mammalian brain.

Methods

Mutant mice were generated by introducing the human H258R missense mutation within exon 10 at an equivalent position in the mouse KCNAB3 gene via CRISPR/Cas9 and

SUBMITTER: Ding J 

PROVIDER: S-EPMC9636457 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature