John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A Volume 19, numéro 3, September 2017


  • Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A


  • Figure 1


1 Department of Pediatric Neurology, Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels
2 Laboratoire de Cartographie Fonctionnelle du Cerveau, Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels
3 Department of Neurology, Hôpital de Tivoli, La Louvière
4 Department of Neurology, Hôpital Erasme, Université libre de Bruxelles (ULB), Brussels
5 Unit of Clinical and Experimental Neurolinguistics, Center for Linguistics (CLIN), Vrije Universiteit Brussel (VUB), Brussels
6 Unit of Translational Neurosciences, School of Medicine and Health Sciences, Universiteit Antwerpen (UA), Antwerp, Belgium
7 IGBMC, CNRS UMR7104, INSERM U964, Strasbourg University, Strasbourg
8 Department of Neurology, Strasbourg University Hospital, Strasbourg
9 Department of Medical Genetics, Groupement Hospitalier Est, and ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon
10 Lyon Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Lyon
11 Department of Pediatric Neurology, Centre Hospitalier Universitaire d’Angers, Angers, France
* Correspondence: Claudine Sculier 78, avenue des Armures, 1190 Brussels, Belgium
  • Mots-clés : opercular syndrome, epileptic encephalopathy, language disorder, GRIN2A, CSWS, speech apraxia
  • DOI : 10.1684/epd.2017.0931
  • Page(s) : 345-50
  • Année de parution : 2017

Epileptic encephalopathies with continuous spike-and-waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity.

Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6-year-old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS. MEG showed bilateral superior parietal and opercular independent CSWS onsets and PET with fluorodeoxyglucose demonstrated significant increase in relative glucose metabolism in bilateral superior parietal regions. Corticosteroids induced a regression of CSWS together with impressive improvement in speech abilities.

This case supports the hypothesis of a triggering role for epileptic discharges in speech deterioration observed in children carrying a deleterious variant of GRIN2A. When classic antiepileptic drugs fail to control epileptic activity, corticosteroids should be considered. Multimodal functional neuroimaging suggests a role for opercular and superior parietal areas in acquired epileptic opercular syndrome. [Published with video sequences on]