Dataset Information

4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2^+/Q390X mice associated with Dravet syndrome.

ABSTRACT:

Objective

γ-Aminobutyric acid type A (GABA_A ) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as Dravet syndrome. Although the GABA_A receptor is a major target for antiseizure medications, treating GABA_A receptor mutations with receptor channel modulators is ineffective. Here, we determined the effect of a novel treatment with 4-phenylbutyrate (PBA) in Gabrg2^+/Q390X knockin mice associated with Dravet syndrome.

Methods

We used biochemistry in conjunction with differential tagging of the wild-type and the mutant alleles, live brain slice surface biotinylation, microsome isolation, patch-clamp whole-cell recordings, and video-monitoring synchronized electroencephalographic (

SUBMITTER: Shen W

PROVIDER: S-EPMC10842976 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

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Dataset Information

4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2^+/Q390X mice associated with Dravet syndrome.

Objective

Methods

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome.

Objective

Methods

OmicsDI is part of the ELIXIR infrastructure

Tweets

4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2^+/Q390X mice associated with Dravet syndrome.