Seminar · Molecular Neuroscience
Mechanistic insights from a mouse model of HCN1 developmental epileptic encephalopathy
Christopher Reid · The Florey Institute of Neuroscience and Mental Health
Wed, Aug 18, 2021 · 16:00 UTC
Pathogenic variants in HCN1 are associated with severe developmental and epileptic encephalopathies (DEE). We have engineered the Hcn1 M294L heterozygous knock-in (Hcn1M294L) mouse which is a homolog of the de novo HCN1 M305L recurrent pathogenic variant. The mouse recapitulates the phenotypic features of patients including having spontaneous seizures and a learning deficit. In this talk I will present experimental work that probes the molecular and cellular mechanisms underlying hyper-excitability in the mouse model. This will include testing the efficacy of currently available antiepilepti