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The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case report -
CONCLUSION: Pathogenic variants of CACNA(1)E, particularly those causing either gain-of-function or loss-of-function effects, are linked to severe neurodevelopmental disorders. Clinically, CACNA(1)E mutations often present in early childhood with severe neurodevelopmental impairment, global developmental delay, autistic features, feeding difficulties, and self-injurious behaviors. The molecular...
Early reduction in unplanned healthcare utilization following vagus nerve stimulation for pediatric epilepsy -
CONCLUSIONS: In a large, consecutive, single-surgeon series, pediatric VNS implantation was associated with an early reduction in unplanned acute healthcare utilization and an exceptional surgical safety profile. Our observations suggest that VNS provides a rapid and clinically significant reduction in unplanned seizure-related hospital admissions and ER visits within the first 3 months of impl...
Accuracy of epilepsy screening tools in community and primary care settings across countries in Sub-Saharan Africa: systematic review and meta-analysis protocol -
INTRODUCTION: Circumstantial evidence suggests that a high proportion of cases of epilepsy in countries across sub-Saharan Africa (SSA) remain undiagnosed. The magnitude of the burden is unknown. Screening tools offer promise for early detection and prevalence estimation that will enable evidence-informed management of epilepsy in SSA. This review will systematically assess the accuracy and rel...
Montelukast activates β4-containing BK channels and emerges as a pharmacological tool to reduce hippocampal excitability -
Large-conductance Ca²⁺- and voltage-activated K⁺ (BK) channels are critical regulators of neuronal excitability and have been implicated in multiple epileptic syndromes. Their functional diversity arises from the co-assembly of pore-forming α-subunits with auxiliary β subunits, among which β4 is highly expressed in distinct regions of the central nervous system, including hippocampal Dentate Gy...
Altered physiology and ensemble recruitment of dentate gyrus semilunar granule cells in a mouse model of epilepsy -
The dentate gyrus is a major locus for structural and synaptic reorganization in temporal lobe epilepsy. While physiological changes during epileptogensis are well characterized in the principal dentate projection neuron, granule cells (GCs), epilepsy-related changes in semilunar granule cells (SGCs), a distinct subset of dentate projection neurons, remain unknown. Using a mouse pilocarpine mod...
Targeted interneuron ablation in an mTORopathy model: testing a two-hit mechanism of epileptogenesis -
OBJECTIVE: Somatic mutations in mechanistic target of rapamycin (mTOR) pathway genes produce focal brain malformations that can lead to epilepsy. Malformations show a high degree of mosaicism, sometimes with less than 1% of neurons carrying the mutation. Seizures are hypothesized to be driven by mutation-carrying dysmorphic excitatory neurons, but lesions in patients and animal models also show...
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