Background: Excessive daytime sleepiness (EDS) forms a prevalent symptom of obstructive sleep apnea (OSA) and narcolepsy type 1 (NT1), while the latter might always be overlooked. Machine learning (ML) models can enable the early detection of these conditions, which has never been applied for diagnosis of NT1. Objective: The study aimed to develop ML prediction models to help non-sleep specialist clinicians identify high probability of comorbid NT1 in patients with OSA early. Methods: Totally, clinical features of 246 patients with OSA in three sleep centers were collected and analyzed for the development of nine ML models. LASSO regression was used for feature selection. Various metrics such as the area under the receiver operating curve (AUC), calibration curve, and decision curve analysis (DCA) were employed to evaluate and compare the performance of these ML models. Model interpretability was demonstrated by Shapley Additive explanations (SHAP). Results: Based on the analysis of AUC, DCA, and calibration curves, the Gradient Boosting Machine (GBM) model demonstrated superior performance compared to other machine learning (ML) models. The top five features used in the GBM model, ranked by feature importance, were age of onset, total limb movements index, sleep latency, non-REM (Rapid Eye Movement) sleep stage 2 and severity of OSA. Conclusion: The study yielded a simple and feasible screening ML-based model for the early identification of NT1 in patients with OSA, which warrants further verification in more extensive clinical practices.

Epileptic spasms followed by a tonic component have been frequently observed in patients with late-onset spasms (LOS). However, there is a lack of comprehensive analysis and summary of clinical data related to tonic spasms (TS), including seizures, video-electroencephalogram (V-EEG), synchronous electromyography (EMG) and follow-up data. To investigate the characteristics of TS, we prospectively collected the clinical data, including 24-h V-EEG and synchronous EMG data of 32 enrolled patients who suffered from epileptic spasms followed by a TS onset at least once during the 24-h V-EEG in the epilepsy center of Xijing Hospital between June 2015 and July 2020. The patients were prescribed anti-seizure medications (ASMs) and followed up for 2–7 years. The average age of epilepsy onset was 48.06 ± 16.07 months (range: 25 to 88 months). Among the enrolled patients, 22 patients presented with mild intellectual deficits. During the 24-h video-EEG monitoring, an average of 6.94 TS events (range: 3 to 21) were recorded, and these TS seizures often occurred in clusters. In addition to TS, 26 patients experienced generalized tonic-clonic seizures (GTCS), atypical absence seizures, myoclonic seizure, and epileptic spasms. None of the 32 patients with TS displayed hypsarrhythmia during the 24-h video-EEG recording. A total of 28 patients showed normal EEG backgrounds. Interictal epileptic discharges, including slow waves (SW), spike/sharp slow waves (SSW), and spikes, often displayed multifocally. Notably, two patients achieved seizure freedom for more than 2 years through monotherapy with oxcarbazepine (OXC), which was associated with normalization of the EEG. It is difficult to classify the patients with TS as any existing epileptic syndromes, which were distinct from West syndrome or Lennox-Gastaut syndrome. TS might be an underreported seizure type and further studies are needed to gain a more comprehensive understanding of the electro-clinical features and appropriate choice of ASMs for treating tonic spasms.

Background Genetic generalized epilepsy (GGE) accounts for nearly one-third of all epilepsies. The feature of status epilepticus (SE) in patients with GGE has been rarely studied. We aimed to determine the electroclinical characteristics of SE in patients with GGE. Methods In this retrospective study, nine patients with GGE were enrolled at Xijing Hospital, Xi’an, China from May 2014 to May 2020. SE was confirmed by 24-h video-EEG recording. The demography, clinical manifestation, brain MRI and SE pattern were analyzed. Results Of the nine patients in the study, seven were female. The mean age of the patients at the time of inclusion was 16.8 years (range 7–31 years), and the mean age at the onset of epilepsy was 10.9 years (range 6–17 years). The follow-up time ranged from 3 months to 6 years. Myoclonic absence status was identified in four patients showing eyelid myoclonia with absence and one patient showing perioral myoclonia with absences. Myoclonic SE was identified in three patients showing juvenile myoclonic epilepsy. Autonomic SE was found in one patient with eyelid myoclonia with absence. SE was terminated by oral midazolam in four patients. In the other five patients, SE terminated spontaneously. Conclusions The seizure type of SE in patients with GGE is often consistent with their major symptoms. Oral midazolam may be an option to terminate SE in patients with GGE.

癫痫性猝死( sudden unexpected death in epilepsy, SUDEP)是癫痫患者整体死亡风险较普通人群显著增高的重要原因,由SUDEP所致的癫痫性死亡已成为重大公共卫生问题.

目的 评估拉考沙胺(lacosamide,LCM)治疗发作性运动诱发性运动障碍(paroxysmal kinesigenic dyski?nesia,PKD)的有效性和安全性.方法 以"发作性运动诱发性运动障碍"、"PKD"为关键词在西京医院神经内科脑电监测中心进行检索,检索时间为2018年11月至2022年9月,共计25例患者符合PKD诊断标准,排除20例使用其他治疗方案的患者,最终纳入使用LCM治疗的5例患者,对5例患者的临床资料、基因检测结果、治疗及随访情况进行回顾性分析.结果 5例患者来自4个家系,男3例,女2例,起病年龄4～17岁,发作均出现于突然运动或有运动想法之后,其中4例患者为双侧症状,1例为单侧肢体症状及面部症状,发作频率5～15次/d,每次持续3～20 s.4例PRRT2基因(+),LCM初始剂量为25～50 mg/d,3 d加量至维持剂量为100～200 mg/d(2.5～3.1 mg/kg);1例PRRT2基因(-),LCM初始剂量为100 mg/d,当天服药即控制症状,目前维持剂量为100 mg/d(1.2 mg/kg).4例(4/5)患者服药后无发作,1例(1/5)患者(PRRT2基因突变阳性)偶有"发作预感"(每2～3个月1次),所有患者服用LCM期间未出现不良反应.结论 LCM治疗PKD可以快速加量,1～3 d可控制症状,未见不良反应.PRRT2基因(-)的PKD患者可能需要小剂量LCM即可控制症状.

Background and objectiveSudden unexpected death in epilepsy (SUDEP) has been regarded as a leading cause of premature death in patients with epilepsy (PWE). Although patients, relatives and caregivers have the right to be informed of SUDEP, neurologists prefer not to release the facts for fear of associated anxiety. In the study, a Chinese questionnaire survey was carried out to elucidate effect of SUDEP disclosure on anxiety in PWE and variables determining the anxiety of patients and provided suggestions for SUDEP disclosure.MethodsA survey study in China was conducted. We recruited 305 PWE from 3 tertiary epilepsy centers who attended outpatient clinic from December 2021 to February 2022. Two hundred and thirty-two PWE completed the screening evaluation, survey and Hamilton anxiety rating scale (HAMA) twice with 171 PWE completing third HAMA at follow-up. HAMA scores at baseline, T1, T2 were compared using analysis of variance and dependent samples t-test. The variables related to anxiety were screened out by univariate analysis and used for multivariate logistic regression.ResultWe found 127 (54.7%) among the 232 participants experienced anxiety after SUDEP disclosure. HAMA scores at T1 were significantly higher than at baseline and T2, while there was no statistical difference between baseline and T2. Medical insurance, seizure severity, and whether the PWE supported SUDEP being disclosed to their relatives and caregivers only were associated with the occurrence of anxiety.ConclusionSUDEP disclosures may cause short-term acute anxiety, but have no long-term effects in PWE. Acute anxiety caused by SUDEP disclosure may be more common in PWE with NCMI and severe seizures. Meanwhile, compared with indirect SUDEP disclosure to their relatives and caregivers, direct SUDEP disclosure to PWE reduces the risk of anxiety. Recommendations are provided to avoid anxiety caused by SUDEP disclosure.

Electrical status epilepticus is a special electroencephalogram phenomenon,which means that the spike and slow waves are almost continuously emitted during the wake-sleep phases.Related concepts are epileptic encephalopa-thy with electrical status epilepticus during slow wave sleep,electrical status epilepticus in sleep,and subclinical electro-graphic seizures.The above related concepts are widely used in clinical practice,but there is a lack of unified criteria.There are abuses and misuses of these concepts.Clarifying related concepts is of great significance for scientific research and clinical practice.

Objective:To investigate the clinical and electrophysiological characteristics of patients with sudden unexpected death of epilepsy (SUDEP).Methods:Using "epilepsy" as the keyword, the relevant cases entered from October 2011 to March 2012 were searched in the database of the Electroencephalogram (EEG) Monitoring Center, Xijing Hospital, the Air Force Military Medical University. Telephone follow-up was conducted for all confirmed epilepsy patients, and for the death cases confirmed by telephone follow-up, the patients identified as consistent with SUDEP diagnosis were included in this study based on their past medical history, clinical data, death details, etc, and their clinical and neuroelectrophysiological characteristics were summarized and analyzed.Results:Among the 1 232 patients who underwent 24-hour video-EEG monitoring during the study period, 354 patients were successfully followed up by telephone interview, of whom 17 patients were died (4.8%), 12 individuals met the diagnosis of SUDEP (7 men, 5 women). The duration of the disease in 9 patients exceeded 10 years. Eight cases presented with focal-bilateral tonic clonic seizures. Nine patients were treated with anti-seizure drug monotherapy. All the 24-hour video EEG of 12 patients were abnormal. There were 8 occasions when the EEG occipital α background rhythm slowed down compared with the standard frequency of peers or was dominated by slow waves. Interictal epileptic discharge (IED) located in temporal lobe were found in 12 EEG records, of which 9 EEG records were found with frontal IED. One of the 12 cases received 24-hour video EEG twice within 6 years, and his EEG background rhythm was significantly slower and the IED region was expanded compared with the first EEG record. At the third year after reexamination of EEG, SUDEP developed in this patient.Conclusions:SUDEP patients have a long course of disease and bilateral tonic-clonic seizure. The interictal EEG shows occipital slow α activity and temporofrontal epileptiform discharges, which may increase the risk of SUDEP.

Objective:To explore the clinical and electro-physiological characteristics of reflex epilepsy induced by thinking activities.Methods:Five patients of reflex epilepsy induced by thinking activities during electroencephalogram (EEG) monitoring in the EEG Monitoring Center, Department of Neurology, Xijing Hospital,the Air Force Military Medical University from January 2017 to September 2019 were studied and followed up.Results:All the 5 patients are male, aged 14 to 33 years, with the disease course of 3 to 9 years and the follow-up of 1 to 4 years. The myoclonic jerks, spasms seizure and generalized tonic and clonic seizure occured to the 5 patients. The EEG background of low amplitude alpha rhythm was recorded in the 5 patiens. The ictal-EEG of 2 cases showed the spike wave or spike slow complex waves in the central, parietal area, and the ictal-EEG of 1 case showed the generalized spike-wave discharge. There were no seizures occuring to the 2 cases during video-electroencephalography monitoring. There were no abnormalities in cranial magnetic resonance imaging. The arterial spin labeling of 2 cases suggested that the right cerebral hemisphere cerebral blood flow was lower than contralateral. Antiseizure drugs (levetiracetam in 4 cases and levetiracetam+magnesium valproate in 1 case) were administered, 4 cases were seizure free and 1 case was uncontrolled.Conclusions:The reflex epilepsy induced by thinking activities is common in young men, and the EEG background with low amplitude alpha rhythm may be the characteristic of the reflex epilepsy induced by thinking activities. The levetiracetam may be the good choice for the reflex epilepsy induced by thinking activities and the prognosis of reflex epilepsy induced by thinking activities is good.

Objective:To explore the electro-clinical characteristics of sleep-related hypermotor epilepsy (SHE) in rapid eye movement (REM) stage.Methods:Five patients of SHE in REM stage were studied and followed up in the Electroencephalogram Monitoring Center, Department of Neurology, Xijing Hospital, the Air Force Military Medical University, from January 2016 to August 2021.Results:Among the 5 patients, there are 3 male patients, aged 21 to 46 years. A total of 23 seizures were monitored in 5 patients, of which 22 occurred in REM sleep and 1 occurred in non-REM Ⅲ sleep. Each attack lasted from 30 seconds to 1 minute, and was manifested as "hyperkinetic attack" during sleep, with or without disturbance of consciousness. There were no obvious abnormalities in electroencephalography during 13 attacks, with the focal sharp slow waves or slow waves during 9 attacks, and the focal slow waves occurrence at the end of the 10 attacks.Conclusion:Most of the hypermotor epileptic seizures in REM stage started from awakening reaction, and the interictal discharges occured in waking and non-REM sleep stage, which is necessary to distinguish from the REM sleep behavior disorder.

目的 探讨围癫痫发作期发生的心脏、呼吸功能障碍全程的临床及电生理特点.方法 对2016年10月-2022年4月在西京医院神经内科脑电监测中心行长程视频脑电监测的12000名患者进行回顾性分析,将癫痫发作期、发作后发生心脏呼吸功能障碍的癫痫患者作为研究对象,分析其癫痫发作全程的临床和电生理变化,并进行随访.结果 在脑电监测期间,3例患者发生5次围癫痫发作期心肺功能障碍.2例女性、1例男性,年龄23～55岁,癫痫病程9～40 y.1例患者发生继发性全身强直阵挛发作(sGTCS)后出现全面EEG抑制(PGES),期间呼吸运动消失,心率低至25次/min,持续74 s;1例患者闪光刺激诱发一次癫痫发作,期间心脏停搏15 s;1例患者2次癫痫发作期间发生心脏停搏,持续时间分别是5 s和3 s.随访时间6 m～7 y,3例患者无癫痫发作.结论 心肺功能障碍发生于癫痫发作后的PGES期间、心脏停搏发生于癫痫发作期,也许与癫痫性猝死有关.

Study Objectives: To evaluate clinical and electrophysiological features of sleep-related head jerk (SRHJ) and electromyographic activity of superficial neck muscles during head jerk. Methods: Totally, 850 cases with video-polysomnography recording were collected, among which 50 presented with SRHJ. In these 50 patients, 15 underwent electromyography (EMG) check on bilateral sternocleidomastoid (SCM) and trapezius muscles as well as chin, while 35 had only chin EMG check. Further, the sensitivity and specificity of the both EMGs were calculated and compared. Results: Six among the 50 SRHJ patients had a primary complaint of involuntary head jerks associated with impaired sleep. Approximately 76.1% of head jerks occurred during REM sleep with the median head jerk index of 5.9/h, 64.5% of which were associated with electroencephalogram arousals and 66.4% with body movements. One patient showed SRHJ predominantly in NREM sleep but also in wakefulness. Surface EMG of SCM/ trapezius muscles showed a sensitivity of 92% and a specificity of 97.8%, whereas chin EMG had a sensitivity of 14.5% and a specificity of 98.8%. Conclusion: SRHJ was associated with electroencephalogram arousals and might interfere with sleep. Surface EMG of SCM/trapezius muscles exhibited a good accuracy in the revelation of SRHJ.

目的 探讨癫痫合并颈肌阵挛的临床和神经电生理特点.方法 以"癫痫"和"颈肌阵挛"为关键词,在西京医院神经内科脑电监测中心数据库进行检索,检索时间为2018年1月至2020年1月.分析检索到的癫痫合并颈肌阵挛患者的临床和神经电生理特点,并随访.结果 4例符合癫痫合并颈肌阵挛的患者均为男性,均为遗传性全面性癫痫.3例为单纯强直阵挛发作癫痫,1例为眼睑肌阵挛伴失神癫痫,首次癫痫发作年龄9～27岁.2例患者在确诊癫痫及使用丙戊酸钠后出现颈肌阵挛,其中1例患者停用丙戊酸钠后颈肌阵挛消失.24 h V-EEG监测期间共记录到254次颈肌阵挛,92.5％肌阵挛发生于快动眼睡眠期,余多见于非快动眼睡眠1期.结论 遗传性全面性癫痫也许更易发生颈肌阵挛,对于遗传性全面性癫痫合并颈肌阵挛的患者,视频脑电监测对于二者鉴别至关重要,二者共存的电临床特点及其机制需进一步研究.

Objective:To describe the electroclinical features of the coexistence of epilepsy and narcolepsy.Methods:The electroencephalography database was searched using the terms “epilepsy” and “narcolepsy” over a four-year period from January 2016 to December 2019 in the Xijing Hospital. The clinical and electrophysiological characteristics of patients with coexistence of epilepsy and narcolepsy were studied.Results:Five patients with comorbidity for epilepsy and narcolepsy were found, of which three patients were female, two patients were male. The age at epilepsy onset and narcolepsy onset was 2-12 years and 8-17 years, respectively. There were two patients with juvenile myoclonic epilepsy, one with sleep-related hypermoter epilepsy, one with epilepsy with retardation of brain development, one with symptomatic epilepsy with cognitive decline. All the patients had narcolepsy with cataplexy, which followed the onset of epilepsy by three months to eight years. All the patients accepted 24 h video electroencephalography monitoring and multiple sleep latency test. Interictal epileptic discharges were found, mean sleep latency was<8 min, and two or more sleep onset rapid eye movement periods were recorded. Duloxetine hydrochloride can effectively improve the drowsiness and catalepsy symptoms of narcolepsy, and seizures did not worsen in patients using duloxetine hydrochloride.Conclusions:Both generalized and focal epilepsy can occur in narcolepsy with cataplexy. Duloxetine hydrochloride may be safe and effective in treating narcolepsy in patients with epilepsy.

Objective:To discuss the clinical and electrophysiological characteristics of neck myoclonus during sleep.Methods:The clinical and electrophysiological characteristics of 31 patients in the Electroencephalography Monitoring Center of Xijing Hospital from January 2020 to August 2020 were studied retrospectively. All the patients received video-polysomnography and video-electroencephalography.Results:There were 22 males (71%) and nine females (29%) in the 31 patients. The mean age of the patients at the time of inclusion in the study was 27.8 years. Neck myoclonus was most common in patients with narcolepsy ( n=8), followed by epilepsy ( n=4), obstructive sleep apnea syndrome ( n=4), anxiety and depression ( n=3), snoring ( n=3), etc. A total of 555 motor events were considered and analyzed, 89.5% (497/555) of which occurred during rapid eye movement (REM) sleep. The mean neck myoclonus index in REM sleep (5.8) was significantly higher than that in non-rapid eye movement sleep (0.2). Totally 48.3% (268/555) of neck myoclonus were accompanied by an arousal, 0.7% (4/555) by a full awakening, and 2.7% (15/555) by limb movements. Conclusions:Neck myoclonus is common during REM sleep, which can occur in patients with sleep disorders and epilepsy. Physiological or pathological significance of neck myoclonus has to be investigated in further studies.

*These authors contributed equally to this work Study Objectives: To evaluate clinical and electrophysiological features of sleep-related head jerk (SRHJ) and electromyographic activity of superficial neck muscles during head jerk. Methods: Totally, 850 cases with video-polysomnography recording were collected, among which 50 presented with SRHJ. In these 50 patients, 15 underwent electromyography (EMG) check on bilateral sternocleidomastoid (SCM) and trapezius muscles as well as chin, while 35 had only chin EMG check. Further, the sensitivity and specificity of the both EMGs were calculated and compared. Results: Six among the 50 SRHJ patients had a primary complaint of involuntary head jerks associated with impaired sleep. Approximately 76.1% of head jerks occurred during REM sleep with the median head jerk index of 5.9/h, 64.5% of which were associated with electroencephalogram arousals and 66.4% with body movements. One patient showed SRHJ predominantly in NREM sleep but also in wakefulness. Surface EMG of SCM/ trapezius muscles showed a sensitivity of 92% and a specificity of 97.8%, whereas chin EMG had a sensitivity of 14.5% and a specificity of 98.8%. Conclusion: SRHJ was associated with electroencephalogram arousals and might interfere with sleep. Surface EMG of SCM/trapezius muscles exhibited a good accuracy in the revelation of SRHJ.

• Cataplexy can be the only clinical manifestation in the early stage of NPC disease. • The electrophysiological feature of cataplexy is different between NPC and idiopathic narcolepsy. • High amplitude delta pattern correlates of cataplexy indicated the involvement of cortico-thalamo-cortical feedback loops. • Electrophysiological monitoring is of great significance to better understand the pathophysiology of cataplexy.

Objective:To discuss the clinical and electrophysiological characteristics of familial cortical myoclonic tremor with epilepsy (FCMTE) with fixation-off sensitivity (FOS).Methods:The clinical and electrophysiological characteristics of four patients diagnosed as FCMTE with FOS in the Electroencephalography (EEG) Monitoring Center of Xijing Hospital from May 2016 to December 2017 were studied and followed up.Results:The four patients were all female. The age was ranged from 29 to 67 years. The course was from six to 30 years, and the follow-up time was at least two years. The tremors and jerks occurred to the four patients frequently when the eyes were closed, which prevented their falling a sleep, and three of them had generalized tonic-clonic seizure occasionally. The FOS was monitored in the all four patients, and the photosensitivity occured to the three of them.Conclusions:The fixation-off sensitive trail during EEG monitoring is helpful to find the FCMTE with FOS. It is necessary to determine the potential clinical significance of FOS and photosensitivity coexisting in patients with FCMTE.