Publications by authors named "Melody A Cheng"
Article Synopsis
- The pathogenic variant -p.Ala421Val (A421V) is linked to severe developmental and epileptic issues, including treatment-resistant epilepsy with various seizure types, but the exact disease mechanisms remain unclear.
- This study created a transgenic mouse model carrying the A421V variant, revealing that its expression leads to epilepsy and early death, along with decreased functions in key inhibitory neurons in the brain.
- Findings showed that the A421V variant disrupts potassium channel expression and neuronal excitability, causing network dysfunction that underlies the observed epileptic encephalopathy.
