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

Claudine Sculier, Anne-Sophie Tilmant, Xavier De Tiège, Sanda Giurgea, Philippe Paquier, Gabrielle Rudolf, Gaetan Lesca, Patrick Van Bogaert

Research output: Contribution to journalArticle

3 Citations (Scopus)


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.MEGshowed 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]
Original languageEnglish
Pages (from-to)345-350
Number of pages6
JournalEpileptic disorders
Issue number3
Publication statusPublished - 2017


  • opercular syndrome, epileptic encephalopathy, language disorder, GRIN2A, CSWS, speech apraxia

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