Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants

• Main Authors: Ya-Juan Wang (Author), Hailey Seibert (Author), Lucie Y. Ahn (Author), Ashleigh E. Schaffer (Author), Ting-Wei Mu (Author)
• Format: Book
• Published: Elsevier, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Recent advances in genetic diagnosis identified variants in genes encoding GABAA receptors as causative for genetic epilepsy. Here, we selected eight disease-associated variants in the α1 subunit of GABAA receptors causing mild to severe clinical phenotypes and showed that they are loss of function,...