Epilepsy and Seizure News
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50 Hz Cortical stimulation increases interictal epileptiform discharges at the seizure onset zone -
More than 15 million patients worldwide suffer from drug-resistant epilepsy (DRE). Surgical removal of the seizure onset zone (SOZ)-the brain region(s) from where seizures arise-is the best available treatment for these patients, with post-surgical outcomes depending on the successful identification and resection of the SOZ. Most commonly, SOZ mapping localizes ictal activity occurring spontane...
Association of decreased CYP2C9 function, HLA-B*40:06, and hemoglobin levels with phenytoin-induced cutaneous adverse reactions in a Southern Thai population -
CONCLUSION: HLA-B alleles and CYP2C9 function were associated with PHT-cADRs. As an exploratory observation, our findings suggest that lower hemoglobin levels and higher white blood cell counts are associated with PHT-cADRs. However, the limited sample size, particularly in the case group, may have led to false-positive and -negative results. Therefore, these findings should be interpreted with...
Association of TPH2 polymorphisms with valproic acid efficacy and neurological adverse events in pediatric epilepsy -
CONCLUSION: TPH2 rs4570625 may serve as a potential exploratory biomarker for predicting VPA efficacy and neurological toxicity in pediatric epilepsy, mediated through serotonergic pathway dysregulation. Genotype-guided personalization could optimize VPA therapy.
Pyridoxine-dependent and other pyridoxine-responsive epilepsies-insights into phenotype overlapping and the long-term outcome in a cohort of 21 children -
AIM: Evaluation of etiology, phenotype, and long-term outcome, and defining the predictors of outcome in children with pyridoxine-responsive seizures.
Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype-Phenotype Correlations -
CONCLUSIONS: ALG13 variants are associated with a broad phenotypic spectrum ranging from DEE to neurodevelopmental impairment without seizures. Our findings support a possible domain-related genotype-phenotype association and provide additional developmental context for the role of ALG13 in neurodevelopmental disorders. Further functional studies are required to clarify the pathogenic mechanism...
Developmental Window-Dependent Effects of Neonatal Tactile Stimulation on Sensorimotor Development in WAG/Rij Rat Pups -
Background: Early-life sensory experiences play a crucial role in the maturation of neural circuits underlying sensorimotor development. The present study investigated whether the effects of neonatal tactile stimulation (NTS) on sensorimotor development depend on the developmental timing of the intervention in WAG/Rij rat pups, a well-established genetic model of absence epilepsy. Methods: Seve...
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