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Valproate-Associated Hyperammonemic Encephalopathy Despite Nontoxic Serum Levels and Preserved Liver Function: A Case Report -
Valproate-associated hyperammonemic encephalopathy (VHE) is a potentially serious adverse effect that may occur despite nontoxic serum valproate concentrations and preserved liver function. We report a 49-year-old man with intellectual disability and long-standing drug-resistant epilepsy treated with valproate, phenytoin, phenobarbital, cenobamate, levetiracetam, and several psychotropic medica...
Managing Drug-Resistant Epilepsy and Severe Feeding Difficulties in Miller-Dieker Syndrome: The Role of Enteral Ketogenic Diet -
Miller-Dieker syndrome (MDS) is a rare genetic disorder characterized by classical lissencephaly, severe neurodevelopmental impairment, and early-onset drug-resistant epilepsy. Feeding difficulties and aspiration pneumonia significantly contribute to morbidity and mortality. Evidence regarding ketogenic diet (KD) therapy in patients with severe neurological impairment requiring exclusive entera...
High frequency stimulation in thalamic reticular nucleus blocks the effect of pentylenetetrazole -
High-frequency stimulation (HFS) is an alternative and promising treatment for intractable epilepsy; however, the optimal targets remain unknown. The thalamic reticular nucleus (TRN) occupies a key position in the modulation of cortico-thalamic and thalamo-cortical pathways. HFS-TRN retarded the generalization of PTZ-induced seizures. To explore the mechanism underlying HFS-TRN, we recorded TRN...
Discovery of H-10 as a potent and safe GABAA receptor positive allosteric modulator: A novel benzothiazine-triazole lead compound with broad-spectrum anticonvulsant activity -
Epilepsy is a severe chronic neurological disorder predominantly caused by aberrant neuronal firing within the central nervous system. Herein, we report the design, synthesis, and biological evaluation of a series of 6-alkoxy-2-(4H-1,2,4-triazol-4-yl)-4H-benzo[d][1,3]thiazine derivatives based on a novel benzothiazine-triazole scaffold. Whole-cell patch-clamp recordings were performed on HEK-29...
Ras-MAPK somatic variants in mesial temporal lobe epilepsy -
Mesial temporal lobe epilepsy is the most common focal epilepsy in adults and has historically been attributed to acquired hippocampal injury caused by precipitating insults such as prolonged febrile seizures and head trauma. However, recent studies have identified somatic variants activating Ras-MAPK signaling in more than 40% of surgically resected mesial temporal lobe epilepsy (MTLE) hippoca...
Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies -
INTRODUCTION: Epilepsy with myoclonic-atonic seizures (EMAtS), historically termed Doose syndrome, is a developmental and epileptic encephalopathy characterized by the usually abrupt onset of multiple generalized seizure types, including myoclonic-atonic seizures, in early childhood. Advances in genetic diagnostics, antiseizure treatments, and precision therapies have reshaped understanding and...
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