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Article

Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.

Cerebral cortex (New York, N.Y. : 1991) - 8 Jun 2023

Knierim Ellen, Vogt Johannes, Kintscher Michael, Ponomarenko Alexey, Baumgart Jan, Beed Prateep, Korotkova Tatiana, Trimbuch Thorsten, Panzer Axel, Steinlein Ortrud K, Stephani Ulrich, Escayg Andrew, Koko Mahmoud, Liu Yuanyuan, Lerche Holger, Schmitz Dietmar, Nitsch Robert, Schuelke Markus

Abstract excerpt

The Phospholipid Phosphatase Related 4 gene (PLPPR4, *607813) encodes the Plasticity-Related-Gene-1 (PRG-1) protein. This cerebral synaptic transmembrane-protein modulates cortical excitatory transmission on glutamatergic neurons. In mice, homozygous Prg-1 deficiency causes juvenile epilepsy. Its epileptogenic potential in humans was unknown. Thus, we screened 18 patients with infantile epileptic spasms syndrome...

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PMID: 36977636
DOI: 10.1093/cercor/bhad051

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