The human GABA A receptor α4 subunit variant Ile114Asn linked to epilepsy impairs membrane expression with β3 and δ subunits
Draegan A. Watson, Cecilia M. Borghese, Kristina Jülich, Audrey C. Brumback, Marcel P. Goldschen-Ohm · 2026
Read The human GABA A receptor α4 subunit variant Ile114Asn linked to epilepsy impairs membrane expression with β3 and δ subunits by Draegan A. Watson, Cecilia M. Borghese, Kristina Jülich, Audrey C. Brumback, Marcel P. Goldschen-Ohm (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13291936.txt.
Description
Draegan A Watson and colleagues test an epilepsy-linked variant in a brain receptor subunit in a 2026 study. GABA-A receptors carry the brain's main fast inhibitory signal, and their subunits often harbor disease variants. The variant studied changes one building block in the alpha4 subunit, at position 114. The team built receptors with partner subunits in human cells and recorded currents with patch-clamp methods. Variant and normal receptors were compared across GABA doses.
Basic channel behavior barely moved with the variant. Basal activity and GABA sensitivity stayed close to normal in the tests. Peak currents under full GABA, though, ran lower for variant channels. That pattern points to fewer working receptors reaching the cell surface, through faulty assembly or delivery. The authors class the variant as likely harmful through reduced membrane expression. Such verdicts help clinicians judge epilepsy gene panels.
Catalog record
| CREATOR | Draegan A. Watson, Cecilia M. Borghese, Kristina Jülich, Audrey C. Brumback, Marcel P. Goldschen-Ohm |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 18 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |