Memantine treatment in individuals with <scp>GRIN</scp> gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency
Our retrospective observational study outlines the importance of correct classification of GRIN variants with regard to pathogenicity and functional consequence prior to applying memantine or other precision medicine approaches in clinical trials. Furthermore, the distance from a GoF variant to the memantine binding site correlated with a positive treatment response and may, at least in part, explain different degrees of therapeutic benefit.
Authors
- Tadeu A. Fantaneanu (ORCID: https://orcid.org/0000-0003-4218-068X)
- Kristen Park (ORCID: https://orcid.org/0000-0001-5527-3047)
- Tim A. Benke (ORCID: https://orcid.org/0000-0002-6969-5061)
- Riley E. Perszyk (ORCID: https://orcid.org/0000-0001-8283-7709)
- Stephen F. Traynelis (ORCID: https://orcid.org/0000-0002-3750-9615)
- An‐Sofie Schoonjans (ORCID: https://orcid.org/0000-0001-7545-518X)
- W. Chen
- P. Striano
- Maike Karnstedt
- Hongjie Yuan (ORCID: https://orcid.org/0000-0002-8127-7145)
- Ellington D. McDaniels
- Marta Agnes Somorai
- Danielle C. M. Veenma
- Scott J. Myers
- Steffen Syrbe
- Johannes R. Lemke
- Ilona Krey
- Ingo Borggraefe
Institutions
- Emory University (US)
- Heidelberg University (DE)
- Ottawa Hospital (CA)
- Istituto Giannina Gaslini (IT)
- University Hospital Heidelberg (DE)
- Children's Hospital Colorado (US)
- Antwerp University Hospital (BE)
- München Klinik (DE)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Technical University of Munich (DE)
- University of Genoa (IT)
- University of Colorado Denver (US)
- Leipzig University (DE)
Publication Details
- Journal
- Epilepsia
- Published
- 2026-01-05
- DOI
- https://doi.org/10.1002/epi.70090
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 30.93
Funders
- Simons Foundation Autism Research Initiative
- Georgia Clinical and Translational Science Alliance
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke