Sophie F. Hill

Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of SCN1A gain-of-function neurodevelopmental disorder

The first mouse model of SCN1A GoF epilepsy with heterozygous Cre-dependent expression of the recurrent patient variant Scn1a-p.R1636Q is developed, the first study of SCN1A GoF epilepsy in a preclinical model in vivo and further investigation in the Scn1aflox(R1636Q)mouse will yield new mechanistic insights into disease mechanisms to drive advances in the treatment of SCN1A GoF epilepsy.