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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...
Hidden labour of caregiving for persons with epilepsy in Limpopo and Mpumalanga provinces, South Africa: a qualitative study -
Caregiving for persons with epilepsy is frequently conceptualised in terms of burden and stigma; however, such framings often obscure the labour-intensive nature of everyday caregiving practices. In rural South Africa, informal caregivers undertake extensive unpaid work that sustains the safety, well-being, and treatment continuity of persons with epilepsy. This study aimed to explore the hidde...
Biomarkers associated with blood-brain interface regulation and relationships to exercise and epilepsy: a brief review -
Epilepsy is characterized by disordered brain networks where blood-brain interface (BBI) dysfunction, neuroinflammation, and progressive neuronal injury play central roles, yet these processes remain challenging to quantify. Circulating and cerebrospinal fluid biomarkers have emerged as promising tools to capture BBI integrity, astroglial and neuroaxonal damage, and cumulative disease burden ac...
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