Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
| Autor: | Pia Gellert, Guido Rubboli, Elena Gardella, Katrine M. Johannesen, Claudia M Bonardi, Gaetan Lesca, Carlo Alberto Tassinari, Cyril Mignot, José M. Serratosa, Chiara Reale, Raffaella Moretti, Rikke S. Møller, Gabrielle Rudolf, Beatriz G. Giráldez |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Encephalopathy Status epilepticus Electroencephalography Sleep Slow-Wave Non-rapid eye movement sleep 050105 experimental psychology Young Adult 03 medical and health sciences Epilepsy Status Epilepticus 0302 clinical medicine Physiology (medical) ESES Speech/oro-motor dyspraxia medicine Humans 0501 psychology and cognitive sciences Language disorder Child X-linked intellectual disabilities Adaptor Proteins Signal Transducing Brain Diseases medicine.diagnostic_test business.industry CNKSR2 05 social sciences Genetic Variation Cognition medicine.disease Magnetic Resonance Imaging Sensory Systems Neurology Child Preschool Female Wakefulness Neurology (clinical) medicine.symptom Spike-wave-index (SWI) business 030217 neurology & neurosurgery |
| Zdroj: | Bonardi, C M, Mignot, C, Serratosa, J M, Giraldez, B G, Moretti, R, Rudolf, G, Reale, C, Gellert, P M, Johannesen, K M, Lesca, G, Tassinari, C A, Gardella, E, Møller, R S & Rubboli, G 2020, ' Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES) ', Clinical Neurophysiology, vol. 131, no. 5, pp. 1030-1039 . https://doi.org/10.1016/j.clinph.2020.01.020 |
| ISSN: | 1388-2457 |
| DOI: | 10.1016/j.clinph.2020.01.020 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect