J Pediatr Genet 2020; 09(04): 252-257
DOI: 10.1055/s-0039-3401028
Case Report
Georg Thieme Verlag KG Stuttgart · New York

GRIN2A-Related Severe Epileptic Encephalopathy Treated with Memantine: An Example of Precision Medicine

Ali Mir
1  Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia
,
Mohammed Qahtani
1  Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia
,
2  Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia
3  Berenson-Allen Center for Non-invasive Brain Stimulation, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, United States
› Author Affiliations
Further Information

Publication History

15 May 2019

04 November 2019

Publication Date:
24 December 2019 (online)

Abstract

Epileptic spasm (ES) is one of the seizure types which is difficult to treat. Next-generation sequencing has facilitated rapid gene discovery that is linked to ES and GRIN2A being one of them. Genotype-driven precision medicine is on the horizon and is a targeted treatment approach toward the precise molecular cause of the disease. GRIN2A gene encodes for a subunit of N-methyl-D-aspartate (NMDA) receptor and it has been suggested from in vitro studies and few case reports that memantine, a NMDA receptor antagonist, was shown to reduce seizures in patients with GRIN2A mutations. Here, we describe a patient with a novel GRIN2A mutation and severe drug-resistant ES who became seizure free with memantine.