Heterozygous GABA_A receptor β3 subunit N110D knock-in mice have epileptic spasms.

ABSTRACT:

Objective

Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock-in mouse with the human infantile spasms-associated de novo mutation GABRB3 (c.A328G, p.N110D) to investigate its molecular mechanisms and to establish the Gabrb3^+/N110D knock-in mouse as a model of infantile spasms syndrome.

Methods

We used electroencephalography (EEG) and video monitoring to characterize seizure types, and a suite of behavioral tests to identify neurological and behavioral impairment in Gabrb3^+/N110D knock-in mice. Miniature inhibitory postsynaptic currents (mIPSCs) were recorded from layer V/VI pyramidal neurons in somatosensory cortex, and extracellular multi-unit recordings from the v

SUBMITTER: Qu S 

PROVIDER: S-EPMC10101922 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature