Article
Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors.
EBioMedicine - 1 Sept 2026
Boßelmann Christian M, Ortiz Sebastian, Dahl Rebekka, Liao Vivian W Y, El-Kamand Serene, Lin Susan X N, Hon Kan Anthony Sze, Brünger Tobias, Lal Dennis, Lerche Holger, Kreuer Jules, Pfeifer Nico, Chebib Mary, Absalom Nathan L, Ahring Philip K, Møller Rikke S
Abstract excerpt
BACKGROUND: Missense variants in genes encoding GABAA receptors are involved in the pathophysiology of common and rare epilepsies. Variant effects on channel biophysical function are associated with key clinical characteristics and treatment response. Predicting variant effects is therefore key to improving care for individuals with GABAA receptor-related disorders. METHODS: We collected data from 505 affected...
Read the complete abstract on PubMedTopics
- Receptors, GABA-A
- Humans
- Mutation, Missense
- Phenotype
- Loss of Function Mutation