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Electroclinical phenotypes-genetic characterization of developmental and epileptic encephalopathies in a cohort study -
OBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype-phenotype characterizations and prognosis with genetically deter...
Patient-independent automated pediatric seizure monitoring based on expert-labeled electrographic ictal data as core reference knowledge -
CONCLUSION: A curated set of expert-labeled ictal EEG segments served as the core reference knowledge for the proposed seizure detector in recognizing seizure occurrence in unseen patients. Because the proposed approach analyzes individual channels in parallel, it may be clinically applicable to continuous seizure monitoring, particularly in wearable seizure detection systems with a limited num...
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8 -
Autophagic vacuoles in muscle fibers are a characteristic finding in several muscle diseases and usually indicate perturbed lysosomal protein degradation. Some of these are associated with defects in proteins directly involved in autophagy and lysosomal degradation. The gene CLN8 encodes an endoplasmic reticulum transmembrane protein, previously associated with childhood-onset neuronal ceroid l...
Seizures Temporally Associated With SSRI Treatment: A Two-Case Report Exploring Agomelatine as a Treatment Alternative -
Selective serotonin reuptake inhibitors (SSRIs) are widely used as first-line treatments for major depressive disorder (MDD) and anxiety disorders, with common adverse effects, including sexual dysfunction, anxiety, insomnia, and appetite changes, although seizures have also been reported, particularly in the presence of risk factors such as older age, family history of epilepsy, neurological c...
Early Psychiatric Manifestations of Lafora Disease: A Case Report -
Lafora disease is a rare genetic progressive myoclonic epilepsy characterized by the onset of epileptic seizures and myoclonus during adolescence, followed by a rapid progression toward neurodegeneration. However, an often underrecognized aspect of this condition is the presence of psychiatric manifestations, particularly depressive and psychotic disorders, which may emerge prior to or concurre...
Beneficial effects of turmeric oil and sunflower seed oil in the rapid kindling rat model of epileptogenesis -
CONCLUSIONS: Both vehicle and turmeric oil exerted anti-ictogenic effects in the rapid kindling model, without attenuating kindling-induced gliosis. Notably, turmeric oil showed modest short-term persistence of its anti-ictogenic effects after washout, consistent with either a transient residual pharmacological action or a limited modulation of seizure progression within this paradigm, but not ...
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