P40 – 2775: Unusual presentation in a child with a mutation in GRIN2A

Abstract

Introduction Mutations in the gene GRIN2A have been reported as an etiology for epilepsy in case of ESES. We here present an unusual presentation in an infant carrying a mutation in GRIN2A, expanding the phenotypic spectrum associated with mutations in this gene. Case report An 8 month-old infant presented with severe development delay and a very extensive range of different electrical and clinical seizures including focal clonic seizures, spasms (generalized or unilateral), stereotyped behaviour, and tonic seizures since the age of 2 months. Seizures were refractory to multiple anti-epileptic drugs. Massive parallel sequencing with a gene panel for epileptic encephalopathies revealed a mutation in GRIN2A, which occurred de novo. In the recent literature, only 2 cases with the same clinical presentation have been reported so far. Conclusion In case of severe epilepsy in infancy, it is important to extend the spectrum of the genes to be studied. Mutations in GRIN2A are not only associated with ESES but must also be explored in case of epileptic encephalopathy with a great diversity of seizures in infancy