Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

Claudia M Bonardi, Cyril Mignot, Jose M Serratosa, Beatriz G Giraldez, Raffaella Moretti, Gabrielle Rudolf, Chiara Reale, Pia M Gellert, Katrine M Johannesen, Gaetan Lesca, Carlo A Tassinari, Elena Gardella, Rikke S Møller, Guido Rubboli

Publikation: Bidrag til tidsskriftArtikelForskningpeer review


OBJECTIVE: To investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants.

METHODS: Detailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES.

RESULTS: Neurodevelopment in infancy was normal in two patients, delayed in three. Epilepsy onset (age range: 2-6 years) was associated with appearance or aggravation of cognitive impairment, language regression and/or behavioral disorders. Worsening of epilepsy and of cognitive/behavioral disturbances paralleled by enhancement of non-rapid eye movement (NREM) sleep-related, frontally predominant, EEG epileptic discharges [spike-wave-index (SWI): range 60-96%] was consistent with ESES. In three patients, episodes of absence status epilepticus or aggravation of atypical absences occurred, in this latter case associated with striking increment of awake SWI. Speech/oro-motor dyspraxia was diagnosed in four patients. In two patients, long-term follow-up showed epilepsy remission and persistence of mild/moderate cognitive disorders and behavioral disturbances into adulthood.

CONCLUSIONS: Novel findings of our study are occurrence also in females, normal neurodevelopment before epilepsy onset, epilepsy aggravation associated with enhanced awake SWI, mild/moderate evolution in adulthood and language disorder due to speech/oro-motor dyspraxia.

SIGNIFICANCE: Our findings expand the phenotypic spectrum of CNKSR2-related ESES.

Sider (fra-til)1030-1039
Antal sider10
TidsskriftClinical Neurophysiology
Udgave nummer5
Tidlig onlinedato13 feb. 2020
StatusUdgivet - maj 2020

Bibliografisk note

Copyright © 2020 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.


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