Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
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DOI：
10.1016/j.clinph.2020.01.020
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发表时间：
2020-05-01
影响因子：
4.7
通讯作者：
Rubboli, Guido
中科院分区：
文献类型：
--
作者：
Bonardi, Claudia M.;Mignot, Cyril;Rubboli, Guido
目的：探讨与 CNKSR2 致病变异相关的慢速睡眠癫痫持续状态脑病（ESES）的临床和脑电图特征。方法：收集 5 例 CNKSR2 相关 ESES 患者的详细临床病史、重复清醒/夜间睡眠脑电图、脑 MRI，其中 1 例为女性。结果：2 例患者婴儿期神经发育正常，3 例延迟。癫痫发作（年龄范围：2-6岁）与认知障碍、语言退化和/或行为障碍的出现或加重有关。癫痫和认知/行为障碍的恶化与非快速眼动 (NREM) 睡眠相关的、额叶为主的 EEG 癫痫放电 [棘波指数 (SWI)：范围 60-96%] 的增强平行，与 ESES 一致。 3 名患者出现失神癫痫持续状态发作或非典型失神加重，后一种情况与清醒 SWI 显着增加相关。四名患者被诊断出言语/口腔运动障碍。在两名患者中，长期随访显示癫痫缓解，并且轻度/中度认知障碍和行为障碍持续到成年期。结论：我们研究的新发现也发生在女性中，癫痫发作前神经发育正常，与清醒 SWI 增强相关的癫痫加重，成年期轻度/中度演变以及言语/口腔运动障碍导致的语言障碍。意义：我们的研究结果扩大了癫痫发作的表型谱。 CNKSR2相关的ESES。 (C) 2020 年国际临床神经生理学联合会。由 Elsevier B.V. 出版。保留所有权利。
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. (C) 2020 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.