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

doi:10.1016/j.clinph.2020.01.020

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

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Publikation: Bidrag til tidsskrift › Artikel › Forskning › peer review

Abstract

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.

Originalsprog	Engelsk
Sider (fra-til)	1030-1039
Antal sider	10
Tidsskrift	Clinical Neurophysiology
Vol/bind	131
Udgave nummer	5
Tidlig onlinedato	13 feb. 2020
DOI	https://doi.org/10.1016/j.clinph.2020.01.020
Status	Udgivet - maj 2020

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10.1016/j.clinph.2020.01.020

Citationsformater

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, 131(5), 1030-1039. https://doi.org/10.1016/j.clinph.2020.01.020

@article{6edca3aeebef4c92888c732fa2e730d7,

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

abstract = "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.",

author = "Bonardi, {Claudia M} and Cyril Mignot and Serratosa, {Jose M} and Giraldez, {Beatriz G} and Raffaella Moretti and Gabrielle Rudolf and Chiara Reale and Gellert, {Pia M} and Johannesen, {Katrine M} and Gaetan Lesca and Tassinari, {Carlo A} and Elena Gardella and M{\o}ller, {Rikke S} and Guido Rubboli",

year = "2020",

month = may,

doi = "10.1016/j.clinph.2020.01.020",

language = "English",

volume = "131",

pages = "1030--1039",

journal = "Clinical Neurophysiology",

issn = "1388-2457",

publisher = "Elsevier Ireland Ltd",

number = "5",

}

Bonardi, CM, Mignot, C, Serratosa, JM, Giraldez, BG, Moretti, R, Rudolf, G, Reale, C, Gellert, PM, Johannesen, KM, Lesca, G, Tassinari, CA, Gardella, E , Møller, RS & Rubboli, G 2020, 'Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)', Clinical Neurophysiology, bind 131, nr. 5, s. 1030-1039. https://doi.org/10.1016/j.clinph.2020.01.020

TY - JOUR

T1 - Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

AU - Bonardi, Claudia M

AU - Mignot, Cyril

AU - Serratosa, Jose M

AU - Giraldez, Beatriz G

AU - Moretti, Raffaella

AU - Rudolf, Gabrielle

AU - Reale, Chiara

AU - Gellert, Pia M

AU - Johannesen, Katrine M

AU - Lesca, Gaetan

AU - Tassinari, Carlo A

AU - Gardella, Elena

AU - Møller, Rikke S

AU - Rubboli, Guido

PY - 2020/5

Y1 - 2020/5

N2 - 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.

AB - 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.

U2 - 10.1016/j.clinph.2020.01.020

DO - 10.1016/j.clinph.2020.01.020

M3 - Article

C2 - 32197126

SN - 1388-2457

VL - 131

SP - 1030

EP - 1039

JO - Clinical Neurophysiology

JF - Clinical Neurophysiology

IS - 5

ER -

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

Abstract

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