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Objective: KCTD7‐related progressive myoclonic epilepsy (PME) is a rare autosomal‐recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort. Methods: Families with molecularly confirmed diagnoses of KCTD7‐related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, treatment, genetic testing, electroencephalographic (EEG), and imaging‐related variables were collected and summarized. Results: Forty‐two patients (36 families) were included. The median age at first seizure was 14 months (interquartile range = 11.75–22.5). Myoclonic seizures were frequently the first seizure type noted (n = 18, 43.9%). EEG and brain magnetic resonance imaging findings were variable. Many patients exhibited delayed development with subsequent progressive regression (n = 16, 38.1%). Twenty‐one cases with genetic testing available (55%) had previously reported variants in KCTD7, and 17 cases (45%) had novel variants in KCTD7 gene. Six patients died in the cohort (age range = 1.5–21 years). The systematic review identified 23 eligible studies and further identified 59 previously reported cases of KCTD7‐related disorders from the literature. The phenotype for the majority of the reported cases was consistent with a PME (n = 52, 88%). Other reported phenotypes in the literature included opsoclonus myoclonus ataxia syndrome (n = 2), myoclonus dystonia (n = 2), and neuronal ceroid lipofuscinosis (n = 3). Eight published cases died over time (14%, age range = 3–18 years). Significance: This study cohort and systematic review consolidated the phenotypic spectrum and natural history of KCTD7‐related disorders. Early onset drug‐resistant epilepsy, relentless neuroregression, and severe neurological sequalae were common. Better understanding of the natural history may help future clinical trials. [ABSTRACT FROM AUTHOR]

Objective: Non‐Hispanic (NH) Black children are less likely to receive a standard treatment course for infantile epileptic spasms syndrome (IESS) than White/NH children at pediatric tertiary care epilepsy centers in the United States. However, if inequities exist in time to diagnosis is unknown. Diagnostic delays as little as 1 week can be associated with worse developmental outcomes. Methods: Diagnostic delays were evaluated in a retrospective cohort of 100 children with new onset IESS between January 2019 and May 2022. Results: Children with Black, Indigenous, and People of Color (BIPOC) caregivers were more likely to experience clinically significant delays in referral from first provider to neurologist, when compared to White/NH children, even after controlling for other demographic and clinical variables (odds ratio = 4.98, confidence interval = 1.24–19.94, p =.023). Significance: Disproportionate diagnostic delays place BIPOC children at risk of adverse developmental and epilepsy outcomes. Further interventional prospective and qualitative studies are needed to address inequities in care. [ABSTRACT FROM AUTHOR]

Despite the widespread use of intraoperative electrocorticography (iECoG) during resective epilepsy surgery, there are conflicting data on its overall efficacy and inability to predict benefit per pathology. Given the heterogeneity of iECoG use in resective epilepsy surgery, it is important to assess the utility of interictal‐based iECoG. This individual patient data (IPD) meta‐analysis seeks to identify the benefit of iECoG during resective epilepsy surgery in achieving seizure freedom for various pathologies. Embase, Scopus, and PubMed were searched from inception to January 31, 2021 using the following terms: "ecog", "electrocorticography", and "epilepsy". Articles were included if they reported seizure freedom at ≥12‐month follow‐up in cohorts with and without iECoG for epilepsy surgery. Non‐English articles, noncomparative iECoG cohorts, and studies with <10% iECoG use were excluded. This meta‐analysis followed the PRISMA 2020 guidelines. The primary outcome was seizure freedom at last follow‐up and time to seizure recurrence, if applicable. Forest plots with random effects modeling assessed the relationship between iECoG use and seizure freedom. Cox regression of IPD was performed to identify predictors of longer duration of seizure freedom. Kaplan–Meier curves with log‐rank test were created to visualize differences in time to seizure recurrence. Of 7504 articles identified, 18 were included for study‐level analysis. iECoG was not associated with higher seizure freedom at the study level (relative risk = 1.09, 95% confidence interval [CI] = 0.96–1.23, p =.19, I2 = 64%), but on IPD (n = 7 studies, 231 patients) iECoG use was independently associated with more favorable seizure outcomes (hazard ratio = 0.47, 95% CI =.23–.95, p =.037). In Kaplan–Meier analysis of specific pathologies, iECoG use was significantly associated with longer seizure freedom only for focal cortical dysplasia (FCD; p <.001) etiology. Number needed to treat for iECoG was 8.8, and for iECoG in FCD it was 4.7. We show iECoG seizure freedom is not achieved uniformly across centers. iECoG is particularly beneficial for FCD etiology in improving seizure freedom. [ABSTRACT FROM AUTHOR]

Background and Objectives: Complete resection of epileptogenic zone is the single most important determinant of favorable seizure outcomes in resective surgery. However, identifying and resecting this zone is challenging in patients harboring diffuse; MRI-occult malformations of cortical development, such as focal cortical dysplasia; or acquired pathology, such as Rasmussen encephalitis. Intraoperative adjuncts that can aid in identifying the lesion and/or epileptogenic zone can optimize the extent of resection and seizure outcome. We sought to study a novel intraoperative tool, brain tonometer, to measure brain stiffness and correlate with histopathological and radiological findings., Methods: Brain stiffness was measured at various presumed normal and abnormal areas of the cortex during surgery in 2 patients with drug-resistant epilepsy. These results were correlated with preoperative and intraoperative neuroimaging and histopathology., Results: We found brain stiffness correlated well with the degree of inflammation and cortical disorganization., Conclusion: Brain tonometry may help to intraoperatively identify inflammatory brain tissue along with structural and histopathological abnormalities. In select cases, this could potentially allow more tailored resections of the underlying lesion, to ensure complete removal of the epileptogenic lesion and improve the probability of achieving seizure freedom, while sparing normal brain leading to better functional outcomes., (Copyright © Congress of Neurological Surgeons 2024. All rights reserved.)