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Phenotype-driven response to sodium channel blockers in neonatal and infantile genetic epilepsies with tonic seizures -
CONCLUSION: SCBs are safe and highly effective in early-onset genetic epilepsies with tonic seizures, particularly in self-limited phenotypes. Recognition of tonic seizure semiology may guide early, phenotype-driven treatment decisions while awaiting genetic results.
How far-reaching is the impact of temporal lobe epilepsy surgery on quality of life 10-44 years after the operation? -
CONCLUSION: Many years after surgery, most patients report good QoL. While seizure freedom remains central, factors linked to cognitive compensation and reduced stress, including disability pension, appear increasingly relevant. Changing expectations may also contribute to improved QoL. Overall, patients appear well adapted post-surgery, with a reduced long-term impact of epilepsy and surgery.
Caring Across Languages: Clinician Perceptions of Variability in US Pediatric Outpatient Epilepsy Care -
Little is known about outpatient language access practices in the United States for children with epilepsy whose families use languages other than English (LOE) for medical care. The Pediatric Epilepsy Research Consortium (PERC) aimed to characterize clinician perceptions of institutional practices by developing and conducting a descriptive survey. We weighted statistical outcomes to equally re...
SVHRSP Attenuates PTZ-Induced Seizure-Like Behavior in C. elegans: Involvement of HSF-1 and Associated Changes in GABAergic Markers and Mitochondrial Homeostasis -
Epilepsy is a prevalent neurological disorder. Nevertheless, approximately one-third of patients fail to achieve sufficient seizure control through current pharmacological treatments. This unmet need underscores the importance of developing new antiseizure treatments for drug-resistant epilepsy. Scorpion venom heat-resistant synthetic peptide (SVHRSP), which is derived from scorpion venom and c...
Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits -
Developmental delay and seizures with or without movement abnormalities (OMIM 617836) caused by heterozygous pathogenic variants in the DHDDS gene (DHDDS-CDG) is a rare genetic disease that belongs to the progressive encephalopathy spectrum. It results in cognitive delay in affected children, accompanied by myoclonus, seizures, ataxia and tremor, which worsens over time. DHDDS encodes a subunit...
Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing -
CONCLUSION: Whole-exome sequencing identified clinically relevant genetic findings in a subset of Southeast Chinese children with seizure disorders. The novel GLI3 frameshift variant may suggest an expansion of the GLI3-associated phenotypic spectrum, but further segregation, functional validation, and larger cohort studies are needed. The high proportion of variants of uncertain significance h...
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