A novel drug reduces motor impairments and premature death in a GRIN2D mouse model
Danielle Galber, Mor Yam, Jolan Nassir, Wayne Frankel, Moran Rubinstein, Karen B. Avraham · FENS Forum 2024
Val667Ile is a de novo variant discovered in the GRIN2D gene found to be associated with Developmental and Epileptic Encephalopathies (DEEs). DEEs are a group of devastating disorders that involve global developmental delay and epileptic abnormalities. Patients with this variant exhibit a range of cognitive and motoric impairments, including intractable epilepsy, intellectual disabilities, motor deficits and premature death. The market lacks suitable treatments that alleviate these symptoms, and available therapy is focused solely on the epileptic phenotype. Our aim is to find a therapy that t
ePoster · Neuroscience