Article
Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy.
Epilepsy research - 1 May 2022
Kane Owen, McCoy Almedia, Jada Reem, Borisov Veronika, Zag Liron, Zag Amir, Schragenheim-Rozales Kinneret, Shalgi Reut, Levy Nina S, Levy Andrew P, Marsh Eric D
Abstract excerpt
IQSEC2 is an X-linked gene localized to the post synaptic density encoding a GTP exchange factor that regulates NMDA mediated changes in synaptic function. Mutations in the IQSEC2 gene are associated with drug resistant epilepsy, intellectual disability and autism. Precision medicine based therapeutics to treat IQSEC2 associated epilepsy requires the development and characterization of mutation specific animal...
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