Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.

ABSTRACT:

Objective

GABA_A receptor subunit gene (GABR) mutations are significant causes of epilepsy, including syndromic epilepsy. This report for the first time, describes intractable epilepsy and blindness due to optic atrophy in our patient, who has a microdeletion of the GABRA1 and GABRG2 genes. We then characterized the molecular phenotypes and determined patho-mechanisms underlying the genotype-phenotype correlations in a mouse model who is haploinsufficient for both genes (Gabra1^+/-/Gabrg2^+/- mouse).

Methods

Electroencephalography was conducted in both human and mice with the same gene loss. GABA_A receptor expression was evaluated by biochemical and imaging approaches. Optic nerve atrophy was evaluated with fundus photography in human

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC10591898 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature