Epileptic Disorders最新文献

Objective: Reproducibility is key for diagnostic tests involving subjective evaluation by experts. Our aim was to systematically review the reproducibility of visual analysis in clinical electroencephalogram (EEG). In this paper, we give data on the scope of EEG features found, and detailed reproducibility data for the most studied feature.

Methods: We searched four databases for articles reporting reproducibility in clinical EEG, until June 2023. Two raters screened 24 553 citations, and then 2736 full texts. Quality was assessed according to the GRRAS guidelines.

Results: We found 275 studies (268 interrater and 20 intrarater), addressing 606 different EEG features. Only 38 EEG features had been studied in >2 studies. Most studies had <50 patients and EEGs. The most often addressed feature was seizure detection (62 papers). Interrater reproducibility of seizure detection was substantial-to-almost-perfect with experienced raters and raw EEG (kappa .62-.88). With experienced raters and transformed EEG, reproducibility was substantial (kappa .63-.70). Inexperienced raters had lower reproducibility. Seizure lateralization reproducibility was moderate to substantial (kappa .58-.77) but lower than for seizure detection.

Significance: Most EEG reproducibility studies are done only once. Intrarater studies are rare. The reproducibility of visual EEG analysis is variable. Interrater reproducibility for seizure detection is substantial-to-perfect with experienced raters and raw EEG, less with inexperienced raters or transformed EEG. The results of visual EEG analysis vary within the same rater, and between raters. There is a need for larger collaborative studies, using improved methodology, as well as more intrarater studies of EEG interpretation.

Objective: Seizures during labor are reported in 3.5% of women with epilepsy (WWE) and can result in both maternal and fetal morbidity. In response to an anecdotal increase in WWE developing seizures in labor or peripartum (up to 24 h post-partum), a review of patients managed in our service was undertaken to define the incidence of peripartum seizures and determine learning points.

Methods: A retrospective review of all cases of WWE having peripartum seizures from 2017 to 2022 in our institution was undertaken. Each case was reviewed by the multidisciplinary team (MDT) and common themes identified.

Results: In total, 106 WWE received pregnancy care in the study period, of whom 8/106 (7.5%) had a seizure in the peripartum period. The MDT-agreed learning points included importance of pre-pregnancy counseling, prompt up-titration of antiepileptic drugs where indicated and recommendations for the management in the peripartum period.

Significance: We concluded that the peripartum period remains a high-risk time for seizures in WWE. There is little evidence to support guidelines for the management of WWE in the peripartum period. In the absence of this evidence, sharing experience may help those managing such women to improve care and reduce risk during this vulnerable time.

We present two unique cases of sleep-related hypermotor epilepsy (SHE) originating from the occipital lobe. Patients with sleep-related seizures and drug-resistant occipital lobe epilepsy were identified from the ANPHY lab stereo-electroencephalography (SEEG) research database at the Duke Comprehensive Epilepsy Center. We identified two young females with frequent sleep-related focal seizures and occasional focal to bilateral tonic clonic seizures characterized by hypermotor movements. During wakefulness, the semiology also involved an elementary visual aura. They meet the 2016 diagnostic criteria for SHE, and SEEG monitoring with cortical stimulation mapping identified an epileptogenic zone (EZ) within the occipital lobe, with most seizures occurring out of NREM 2 sleep. Responsive neurostimulation devices were implanted, which indicated a trend for event detections in nocturnal periods. Extrafrontal SHE has characteristically been described in the temporal, insular-opercular, and parietal lobes. Here, we demonstrate using SEEG-confirmed EZ identification, that SHE can also originate in the occipital lobe. In patients with sleep-related seizures and hypermotor behavior, occipital lobe seizures thus should not be excluded from the differential diagnosis. Key in identifying this rare localization is non-frontal aura semiology and delay to motor symptoms, which may be supported by a visual field deficit and structural MRI abnormality.

Objective: Genetic causes are often overlooked in patients with epilepsy of unknown etiology, particularly in adults. We aimed to evaluate clinical features of genetic epilepsy and the utility of genetic testing.

Methods: We retrospectively screened consecutive unrelated adult epilepsy patients at an epilepsy clinic from April 2022 to May 2023. Patients with unknown etiology or special brain lesions were classified as unexplained epilepsy. In them, patients with young-onset seizures or family history of seizures who were recommended for and ultimately underwent genetic testing using either panel next-generation sequencing (NGS) or whole-exome sequencing (WES) were enrolled. A definite or probable genetic diagnosis was established through genotype-phenotype correlation. We compared the demographic characteristics between genetic epilepsy and other etiologies.

Results: Of the 374 adult epilepsy patients, 258 were classified as unexplained epilepsy, 129 were suspected of having genetic epilepsy due to young-onset seizures or a positive family history, 33 underwent genetic testing; 13 harbored variants classified as pathogenic, and 6 reached a definite genetic diagnosis, resulting in a yield of 18%. Among the 27 patients without a definite genetic diagnosis, 7 had a nongenetic structural etiology. Patients with genetic etiology exhibited greater multisystem involvement particularly multiple structural anomalies and early childhood-onset seizures, but wasn't directly correlated with young-onset seizures or a positive family history. The diagnostic yield was comparable between panel NGS and WES.

Significance: In adult patients with unexplained epilepsy, genetic epilepsy is more associated with multisystem involvement and multiple structural anomalies but not family history of seizures or young-onset seizures.