Award
National Institute of Neurological Disorders and Stroke 5K08NS121601-05
Multi-scale disease modeling of SCN2A-related epilepsy due to gain-of-function variants
Recipient
Northwestern University, Chicago, IL, United States
Award Amount
$225,180.00
Ceiling
$225,180.00
Awarded
May 11, 2026
Identifier
5K08NS121601-05
Research project funded by NINDS to study the mechanisms of SCN2A-related epilepsy using neuron and animal models, aiming to understand genetic causes of seizures and develop targeted therapies.
Description
This project aims to provide new insights into how single gene changes lead to recurrent seizures by examining neurons and animal models, focusing on SCN2A-related epilepsy caused by gain-of-function variants. The study will analyze how specific mutations (M1879T and E430A) increase neuronal excitability and how these alterations affect neural circuits, contributing to epilepsy phenotypes.