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Self-limited neonatal epilepsy with 2q24.3 duplications: Case series and literature review -
OBJECTIVE: To clarify the phenotypic spectrum associated with duplications involving the 2q24.3 region, which includes a cluster of genes encoding sodium channel subunits (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A).
Clinical vignette: Seizure recurrence after hemispheric disconnection-An EEG false lateralization trap -
No abstract
Collapse of feed-forward inhibition underpins hyperexcitability in GABAA gain-of-function epilepsy -
Gain-of-function (GOF) variants in GABAA receptors are increasingly recognised as a cause of severe developmental and epileptic encephalopathies (DEE). However, the mechanisms by which enhanced GABAA receptor activity leads to neuronal network hyperexcitability remains unclear. We engineered a novel mouse model based on the human GOF GABRB3 p.(Glu77Lys) variant (β3E77K), identified in two indiv...
Exploring the role of PD-1 as a marker in drug-refractory epilepsy and its potential indication for valproic acid treatment -
CONCLUSION: These findings identify PD-1 as a promising immune-inflammatory biomarker for DRE and its severe forms. Moreover, they suggest that the efficacy of VPA in ISE is mediated through the modulation of the PD-1 pathway and related cytokines, rather than a direct concentration-dependent pharmacological effect.
Knowledge, readiness to help, and attitudes toward epilepsy: A comparative study among Palestinian university students in health and non-health majors -
This study explored and compared knowledge, readiness to help, and attitudes toward epilepsy among Palestinian university students enrolled in health‑related and non‑health majors. A cross‑sectional survey was conducted among Palestinian universities students, using a validated questionnaire covering sociodemographic characteristics, knowledge (8 items), readiness to help (4 items), and attitud...
Associations of eating behaviors, dietary inflammation, and visceral adiposity with clinical and psychological features in epilepsy -
CONCLUSIONS: These findings indicate a close interplay between dietary behaviors, systemic inflammation, and epilepsy-related clinical features. The results emphasize the need for long-term, comprehensive studies focusing on inflammatory dietary patterns and their potential role in the management of epilepsy.
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