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