Research

The Patel lab focuses on understanding the cellular mechanisms by which seizures are initiated in SCN8A epileptic encephalopathy (DEE13). SCN8A EE is a severe genetic epilepsy syndrome caused by de novo mutations in the SCN8A gene, which codes for the voltage-gated sodium channel isoform Na_v1.6. Our lab has two mouse models of patient-derived SCN8A mutations; N1768D (Scn8a^D/+) which allows global heterozygous expression of the N1768D pathogenic Scn8a variant and a conditional mouse in which the expression of R1872W (Scn8a^w/+) mutation is dependent on Cre recombinase. Using a variety of techniques including both in vivo and in vitro recordings to better understand the development and mechanisms of seizure initiation and seizure induced death (SUDEP) in these mice.