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Background: Genetic testing for neurodevelopmental disorders is now considered the standard of care for unexplained epilepsy as well as autism spectrum disorders, intellectual disability, and developmental delays with as many as 50% of individuals identified as having an underlying genetic etiology. Capicua ( CIC ) is a transcriptional repressor and is widely expressed among human brain tissue. Patients in the literature with pathogenic variants in CIC present with a broad spectrum of phenotypic abnormalities. Common features include epilepsy, developmental delay, intellectual disability, autism spectrum disorder, and MRI abnormalities amongst other neurodevelopmental symptoms. Variant type, age of onset, sex, and severity of manifestation also differ amongst probands. However, the full genotypic and phenotypic spectrum of CIC -related neurodevelopmental disorder has not been elucidated., Methods: Here we review patients reported in the literature with CIC variants and present two additional patients representing a novel genotype and phenotype., Results: Whole exome sequencing (WES) in this proband identified a novel paternally inherited likely pathogenic variant in CIC c.1526del p.(Pro509Hisfs*14). Both proband and father present with isolated epilepsy without other significant neurodevelopmental disorders. A review of the previous literature identified 20 individuals harboring CIC variants; the majority of these individuals present with a combination of neurodevelopmental features. Sixteen distinct variants were identified amongst these 20 patients., Conclusions: This family represents an expansion of the genotypic and phenotypic spectrum of CIC -related neurodevelopmental disorder. This information may lead to clinically actionable management changes for future patients identified with CIC variants considering standard anti-epileptic medication-weaning protocols.

People with diabetes can wear a device that measures blood glucose and delivers just the amount of insulin needed to return the glucose level to within bounds. Currently, people with epilepsy do not have access to an equivalent wearable device that measures a systemic indicator of an impending seizure and delivers a rapidly acting medication or other intervention (e.g., an electrical stimulus) to terminate or prevent a seizure. Given that seizure susceptibility is reliably increased in systemic inflammatory states, we propose a novel closed-loop device where release of a fast-acting therapy is governed by sensors that quantify the magnitude of systemic inflammation. Here, we review the evidence that patients with epilepsy have raised levels of systemic indicators of inflammation than controls, and that some anti-inflammatory drugs have reduced seizure occurrence in animals and humans. We then consider the options of what might be incorporated into a responsive anti-seizure system., (© 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Purpose: To compare epilepsy-related injuries in untreated or inadequately treated patients and patients on adequate treatment., Methods: In a cross-sectional case-control study, seizure-related injuries in patients who were either on no treatment or inadequate treatment were compared with another group of patients receiving appropriate evidence-based epilepsy treatment. The inadequately treated patients or 'cases' were drawn from an outreach epilepsy clinic while the adequately treated patients or 'controls' were recruited from a tertiary care facility providing comprehensive epilepsy management., Results: The odds of injury were eight times higher in inadequately treated patients or cases compared to the adequately treated patients or controls. After adjusting for gender, epilepsy duration, seizure frequency, current medication, and number of AEDs, the odds of injury were 15. 8 times higher in the cases. Major injuries such as burns, fractures, and tooth injuries were also higher in the cases., Conclusion: Untreated or inadequately treated epilepsy patients have a significantly higher risk of injuries. With adequate treatment, some of the risks of injury can be mitigated., (Copyright © 2020 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Purpose: The aim of this study was to analyze pre-hospital seizure rescue medication (RM) use in a pediatric epilepsy population, caregiver knowledge and comfort, and prescription patterns., Method: Cross-sectional observational study based on surveys to families of pediatric patients with epilepsy and based on medical chart review., Results: One hundred (88%) out of 114 families answered the questionnaire. Fifty-five patients were females (55%), with a median (IQR) age of 11 (6-14) years. Eighty-seven (87%) patients had RM prescribed, and 37 (42.5%) used it in the past. In univariate analysis, patients were more likely to have a RM when they had a history of SE (p<0.001), or had seizures ≥30seconds (p=0.001). Patients were not more likely to be prescribed a RM if they were diagnosed at <2years of age, had ≥3 anti-seizure medications (ASM), had a history of seizure clusters or uncontrolled epilepsy, or were currently not on ASMs. In multivariate analysis a history of SE (p=0.02) and seizure duration ≥30seconds (p=0.04) remained significant. Out of 91 families, 68 (75%) prefer a non-rectal RM; this was higher for patients with normal development, and not associated with age or sex. Fifty-three (61%) families reported that they received RM training. Ten (12%) parents did not know the RM name, and 31 (36%) did not know the administration timing. Forty-five (45%) families had a seizure action plan (SAP), and this was a predictor for knowing the RM name (p=0.04), the administration timing (p=0.004), availability of RM at school (p=0.02), and knowing what to do if the RM fails (p=0.008)., Conclusions: Most patients with epilepsy had a RM, but only 61% reported receiving training. Patients were more likely to have a RM if they had prior SE and longer seizure duration. Families with a SAP were more knowledgeable, and schools were more involved., (Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)