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An Online Epilepsy Self-Management Tool for Patients With Epilepsy: A Formative Usability Study -
CONCLUSIONS: The results replicated usability findings from earlier versions of MINDSET but also catalyzed adjustments to user survey response options and algorithm repair. The value of the formative user experience functionality assessment was demonstrated to ensure a high-fidelity program prior to feasibility testing in neurology clinic settings.
Sustained seizure reduction, treatment simplification, and high retention with cenobamate: A 12-month real-world study in refractory and ultra-refractory focal epilepsy -
OBJECTIVE: To assess the 12-month clinical impact of cenobamate (CNB) in adults with drug-resistant focal epilepsy in clinical practice, exploring whether outcomes differed according to prior antiseizure medication (ASM) exposure.
Refractory Temporal Gelastic Seizure: A Case Report -
Gelastic seizures are rare epileptic events characterized by sudden, unprovoked bursts of laughter that are typically associated with hypothalamic hamartomas but may also arise from cortical epileptogenic foci. We report the case of an eight-year-old boy born prematurely at 28 weeks' gestation who presented with a two-year history of recurrent hypermotor seizures, loss of consciousness, behavio...
A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye -
CONCLUSION: Jaberi-Elahi syndrome should be considered in infants with severe congenital microcephaly, developmental delay, seizures, and craniofacial features, particularly in the context of consanguinity and abnormal brain MRI. This report expands the molecular and clinical spectrum of Jaberi-Elahi syndrome.
Remarkable Clinical Improvement after Folinic Acid Supplementation in Cerebral Folate Transport Deficiency and Epileptic Encephalopathy: A Case Report -
CONCLUSION: This case illustrates that folinic acid supplementation can lead to remarkable neurological recovery, even with substantial diagnostic delay. FOLR1-related CFTD should be considered in children with refractory epilepsy and developmental regression.
Functional connectivity predictors and mechanisms of symptom change in functional neurological disorder -
Clinical trajectories in patients with functional neurological disorder (FND) are variable, and the neural mechanisms underlying this heterogeneity remain poorly understood. This longitudinal brain imaging study examined resting-state functional connectivity predictors and mechanisms of symptom change in FND. Thirty-two adults with FND (motor and/or seizure phenotypes) completed baseline questi...
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