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Neuropediatrics 2022; 53(04): 287-290
DOI: 10.1055/s-0041-1739130
Short Communication

Favorable Response to “Memantine” in a Child with GRIN2B Epileptic Encephalopathy

Sathya Chidambaram
1   Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu
,
Ranjith Kumar Manokaran
2   Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu
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Abstract

GRIN2B is a gene encoding GluN2B subunit under the family of N-methyl D-aspartate (NMDA) receptors, which is responsible for neurogenesis and cognitive processes. The role of NMDA receptor antagonists like memantine is being explored for therapies in drug-resistant epilepsies. Here, we present a case of a 20-month-old boy who presented with refractory epileptic spasms. Upon failure of multiple antiepileptic drugs, he was started on oral memantine. There was a significant reduction in average seizure episodes by ∼80%. The use of memantine along with antiepileptic drug polytherapy has proved to be beneficial in our case. Our experience with memantine and favorable outcome opens up the scope of more research into the use of NMDA receptor antagonist as a drug option for refractory epilepsies with proven genetic mutation and hence improves the overall neurodevelopmental outcome and survival chance.

Keywords

GRIN2B - memantine - epileptic encephalopathy - epileptic spasms

Supplementary Material



Publication History

Received: 15 March 2021

Accepted: 31 August 2021

Article published online:
29 November 2021

© 2021. Thieme. All rights reserved.

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  • References

  • 1 Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Human GRIN2B variants in neurodevelopmental disorders. J Pharmacol Sci 2016; 132 (02) 115-121
    CrossrefPubMedGoogle Scholar
  • 2 Mir A, Qahtani M, Bashir S. GRIN2A-related severe epileptic encephalopathy treated with memantine: an example of precision medicine. J Pediatr Genet 2020; 9 (04) 252-257
    Article in Thieme ConnectPubMedGoogle Scholar
  • 3 Platzer K, Yuan H, Schütz H. et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet 2017; 54 (07) 460-470
    CrossrefPubMedGoogle Scholar
  • 4 Sharawat IK, Yadav J, Saini L. Novel GRIN2B mutation: a rare cause of severe epileptic encephalopathy. Neurol India 2019; 67 (02) 562-563
    CrossrefPubMedGoogle Scholar
  • 5 He N, Lin Z-J, Wang J. et al. Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies. Genet Med 2019; 21 (01) 17-27
    CrossrefPubMedGoogle Scholar
  • 6 Lemke JR, Hendrickx R, Geider K. et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 2014; 75 (01) 147-154
    CrossrefPubMedGoogle Scholar
  • 7 Pierson TM, Yuan H, Marsh ED. et al; PhD for the NISC Comparative Sequencing Program. GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol 2014; 1 (03) 190-198
    CrossrefPubMedGoogle Scholar
  • 8 Stosser MB, Lindy AS, Butler E. et al. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders. Genet Med 2018; 20 (04) 403-410
    CrossrefPubMedGoogle Scholar
  • 9 Johnson JW, Kotermanski SE. Mechanism of action of memantine. Curr Opin Pharmacol 2006; 6 (01) 61-67
    CrossrefPubMedGoogle Scholar
  • 10 Ghasemi M, Schachter SC. The NMDA receptor complex as a therapeutic target in epilepsy: a review. Epilepsy Behav 2011; 22 (04) 617-640
    CrossrefPubMedGoogle Scholar