Epileptic Disorders最新文献

Objective: To summarize the electro-clinical and genetic characteristics of children with Mowat-Wilson syndrome (MWS).

Methods: This study is a hospital-based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024. Information on seizures, electroencephalographic features, genetic characteristics, treatment, and prognosis was summarized and analyzed using descriptive statistics.

Results: Among the 31 children (16 males and 15 females), seizure onset occurred at a median age of 25.5 months (range: 1-113 months). Eighteen cases (58.1%, 18/31) began with fever-induced seizures; all 31 children experienced focal seizures, and 16 (51.6%, 16/31) exhibited atypical seizure presentations. Twelve (38.7%, 12/31) experienced seizures accompanied by gastrointestinal (GI) symptoms. Two children had myoclonic seizures, one had epileptic spasms, and another had atypical absence seizures. Ten (32.3%, 10/31) experienced convulsive status epilepticus. Electroencephalographic findings evolved from posterior head-dominant discharges to multifocal or anterior head-dominant discharges, with a significant increase in discharges during sleep. All 31 children had de novo ZEB2 variants, including 27 with single-nucleotide variants (SNVs) or insertions/deletions (indels) and four with copy number variants. Among the SNVs/indels, nonsense (13) and frameshift (12) variants predominated. One patient with rare seizures did not receive anti-seizure medication (ASM). Thirty received ASMs; both levetiracetam and valproic acid, used as monotherapy or in combination, proved effective. Sixteen children achieved seizure control for more than 6 months, and seven maintained seizure control for over 1 year.

Significance: Our findings reveal the electro-clinical characteristics, genetic variants, and effective treatments associated with MWS, providing an important basis for clinical diagnosis and management.

Objective: Abrupt benzodiazepine (BDZ) withdrawal may induce nonconvulsive status epilepticus (NCSE), but information regarding its clinical and EEG features is limited. Our aim was to better characterize this condition.

Methods: Patients with NCSE according to Salzburg criteria secondary to abrupt BDZ withdrawal identified at our center (2009-2024) were included. Clinical data, seizure semiology, and EEG, were described using ILAE, ACNS, and Salzburg criteria; clinical response to BDZ was quantified using the NCSE response scale (NRS). Recurrences at long-term follow-up were documented.

Results: Fifteen patients (median age 68 years, 53% male) were identified, accounting for 4% of all NCSE cases. None had epilepsy, 80% had psychiatric disorders, and 47% had cognitive impairment. Six (40%) subjects were taking only a low-dose BDZ, and only one was above the therapeutic range. Potential seizure facilitators were identified in all but one patient, including withdrawal from other drugs (60%) or infections (33%). There were two clinical presentations: (1) recurrent absence seizures lasting ≤15 min with asymptomatic periods in-between (67%); and (2) continuous, fluctuating consciousness impairment (33%). Motor phenomena (67%) - including increased or decreased blinking, movement-induced myoclonus or automatisms-, and generalized tonic-clonic seizures (60%) were frequent. Before EEG, BDZ withdrawal was not suspected in any case. The ictal EEG activity consisted of generalized, rhythmic, or irregular polyspike-slow waves and spike-slow waves with gradual onset and offset. However, in 20%, this ictal pattern was less developed. Intravenous clonazepam induced an immediate EEG and clinical improvement, but complete control of seizures required 1-3 days. At follow-up, a new abrupt BDZ withdrawal caused absence seizures recurrence in 4/7 patients still on BDZ treatment, but in none of the eight patients who had gradually discontinued BDZ.

Significance: NCSE secondary to BDZ withdrawal has distinctive clinical and EEG features but is misdiagnosed without an EEG. Reintroduction of BDZ stops seizures, but long-term management requires gradual BDZ discontinuation to prevent recurrences.

Objective: Status epilepticus in pregnancy (SEP) is a rare neurological emergency that demands prompt treatment due to the high risk for both maternal and fetal complications. Published data on SEP, its management, etiology, and pregnancy outcomes remain limited.

Methods: We conducted a prospective observational study at a tertiary referral center, including six patients who developed SEP. Demographic and clinical characteristics were collected and analyzed.

Results: During the studied period (2021-2024), SEP accounted for 4.4% of all SE, and super-refractory SEP (SRSEP) was identified in 50% (3/6) of SEP cases. Convulsive and nonconvulsive SE occurred at the same frequency, with NCSE being predominant in the SRSEP group (2/3, 66.67%). Five (83.3%) patients had a history of epilepsy, and in three (60%), intractability was established. One patient experienced acute symptomatic SE within the first hours following delivery. Benzodiazepines (BDZ) were used as first-line treatment in all patients, followed by phenobarbital (PB), whereas midazolam (MDZ) and/or propofol were given for SRSEP. No patient experienced a recurrence of SE during pregnancy. At discharge, all patients had a good functional outcome {mRS 1 (interquartile range [IQR] 0-2)}. One patient delivered immediately after SEP resolution, while two (40%) had preterm deliveries and two (40%) had term deliveries. Median Apgar score was 9 (IQR 5-9).

Significance: Our results showed that worsening of preexisting focal epilepsy was the greatest risk for SEP and SRSEP development in our tertiary center; however, the use of standard-of-care treatment for SE led to favorable short-term maternal and fetal outcomes.

Objective: For mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE with HS), laser interstitial thermal therapy has recently been increasingly used. At our institute, however, selective amygdalohippocampectomy by a trans-anterior T1 subpial approach (trans-anterior T1 SAH) has been used for MTLE with HS. Here, we examined the seizure, neuropsychological, and quality of life (QOL) outcomes after trans-anterior T1 SAH.

Methods: One hundred patients with MTLE with HS who underwent trans-anterior T1 SAH and were followed for at least 1 year after surgery were included. Seizure outcomes, intelligence and memory, visual field changes evaluated by perimetry, and QOL were investigated.

Results: Seizure-free outcome (Engel class I) at the latest follow-up (mean 4.6 years) was achieved in 88/100 (88%) patients. Only 1 of 100 patients underwent intracranial EEG. Postoperative contralateral upper quadrantanopia was detected in only 15/73 (21%) of patients. Significant improvements in full-scale IQ, verbal IQ, and performance IQ, as examined by the Wechsler Adult Intelligence Scale-III, were seen in both the language-dominant-side surgery and the language-nondominant-side surgery groups. In patients who underwent language-dominant-side SAH, significant declines in general memory and verbal memory scores on the Wechsler memory scale - revised edition were observed at a group level. Significant improvement in attention/concentration was seen regardless of the surgical side. QOL analysis revealed that approximately 30% of patients felt their memory declined after surgery; however, half of the patients felt that being free to go out and become employed was an advantage, and about 90% of patients were satisfied with their surgical treatment.

Significance: Trans-anterior T1 SAH led to favorable seizure outcomes in about 90% of patients with MTLE with HS. Most patients were pleased with their surgery. In patients with MTLE with HS, the preferred surgical strategy should still be SAH.

Migraine and epilepsy are two common yet distinctive neurological disorders. All the same, a convergence between the two disorders is suggested by a number of clinical, mechanistic, and now, genetic studies. Migraine occurs more frequently in people with epilepsy, and epilepsy probably occurs more often among individuals with migraine in comparison to the general population. The common epilepsies and migraines have polygenic bases. Despite the phenotypic, mechanistic, and genetic heterogeneity underpinning the two disorders, there are numerous clinical and genetic studies emphasizing the occurrence of both in families and individuals. In addition, there are some rare monogenic disorders, such as familial hemiplegic migraines, in which both seizures and epilepsies are core clinical features. The reason behind the occurrence of seizures and epilepsies in some people with familial hemiplegic migraine, but not in others, is unknown. Alongside continued exploration of the genetic bases of migraine and epilepsy individually, the time is ripe to investigate shared genetic susceptibility for a better understanding of common mechanisms and the overlapping occurrence of the two conditions. Recent developments in computational and other genetic approaches have opened up new avenues for research. At the same time, more functional studies in the monogenic cases of familial hemiplegic migraine are desirable to shed light on the shared basis of migraine and epilepsy.

Objective: As large language models (LLMs) become more accessible, they may be used to explain challenging EEG concepts to nonspecialists. This study aimed to compare the accuracy, completeness, and readability of EEG-related responses from three LLM-based chatbots and to assess inter-rater agreement.

Methods: One hundred questions, covering 10 EEG categories, were entered into ChatGPT, Copilot, and Gemini. Six raters from the clinical neurophysiology field (two physicians, two teachers, and two technicians) evaluated the responses. Accuracy was rated on a 6-point scale, completeness on a 3-point scale, and readability was assessed using the Automated Readability Index (ARI). We used a repeated-measures ANOVA for group differences in accuracy and readability, the intraclass correlation coefficient (ICC) for inter-rater reliability, and a two-way ANOVA, with chatbot and raters as factors, for completeness.

Results: Total accuracy was significantly higher for ChatGPT (mean ± SD 4.54 ± .05) compared with Copilot (mean ± SD 4.11 ± .08) and Gemini (mean ± SD 4.16 ± .13) (p < .001). ChatGPT's lowest performance was in normal variants and patterns of uncertain significance (mean ± SD 3.10 ± .14), while Copilot and Gemini performed lowest in ictal EEG patterns (mean ± SD 2.93 ± .11 and 3.37 ± .24, respectively). Although inter-rater agreement for accuracy was excellent among physicians (ICC = .969) and teachers (ICC = .926), it was poor for technicians in several EEG categories. ChatGPT achieved significantly higher completeness scores than Copilot (p < .001) and Gemini (p = .01). ChatGPT text (ARI - mean ± SD 17.41 ± 2.38) was less readable than Copilot (ARI -mean ± SD 11.14 ± 2.60) (p < .001) and Gemini (ARI - mean ± SD 14.16 ± 3.33).

Significance: Chatbots achieved relatively high accuracy, but not without flaws, emphasizing that the information provided requires verification. ChatGPT outperformed the other chatbots in accuracy and completeness, though at the expense of readability. The lower inter-rater agreement among technicians may reflect a gap in standardized training or practical experience, potentially impacting the consistency of EEG-related content assessment.

Objective: In recent research, cognitive estimation has been shown to be impaired in patients with right-sided mesial temporal lobe epilepsy due to hippocampal sclerosis (mTLE-HS), an often drug-resistant epilepsy subtype. Despite the impact of cognitive estimation on patients' daily life, its neural basis and outcome in epilepsy surgery are relatively unknown. This study examines the significance of the right temporal lobe regarding cognitive estimation before and after epilepsy surgery.

Methods: Two hypotheses were tested: Right mTLE-HS patients show worse presurgical cognitive estimation performance compared to left mTLE-HS patients (H1). Postoperative cognitive estimation performance is specifically related to variables such as age of epilepsy onset, duration of epilepsy, verbal IQ, and the side of mTLE-HS (H2). In this study, pre- and postsurgical data of 45 patients from the Epilepsy Center Erlangen with unilateral mTLE-HS were analyzed. H1 was tested with a two-sample student's T-test. H2 was tested with a multiple linear regression model with the corresponding variables as predictors for postoperative change in cognitive estimation performance.

Results: Contrary to our hypothesis statistical analysis revealed worse cognitive estimation scores in left mTLE-HS before surgery. The side of mTLE-HS did not significantly predict change in cognitive estimation. However, the age of epilepsy onset was identified as a significant predictor.

Significance: Deficits in cognitive estimation can affect various daily activities, as this skill is needed in many social contexts. Understanding the causes of estimation deficits can support preventive measures and a more precise outcome evaluation after resective epilepsy surgery. Furthermore, it contributes to understanding the cognitive mechanisms underlying cognitive estimation and related processes.