Melody Cheng on Muck Rack

Melody Cheng

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Articles

Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy

|
By Eric Wengert, Melody Cheng, Sophie R. Liebergall, Kelly H. Markwalter
| biorxiv.org
Abstract The recurrent pathogenic variant KCNC1-p.Ala421Val (A421V) is a cause of developmental and epileptic encephalopathy characterized by moderate-to-severe developmental delay/intellectual disability, and infantile-onset treatment-resistant epilepsy with multiple seizure types including myoclonic seizures. Yet, the mechanistic basis of disease is unclear.
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