Epilepsy and Seizure News
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In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse model -
Dravet syndrome (DS) is a severe neurodevelopmental disorder characterized by drug-resistant epilepsy, temperature-sensitive seizures, cognitive impairment, and a high incidence of sudden unexpected death in epilepsy (SUDEP). DS is caused by loss-of-function variants in SCN1A, which encodes the α subunit of the voltage-gated sodium channel (Na(v)1.1). Current approved treatments manage symptoms...
Prime editing of a pathogenic Scn1a allele ameliorates seizure phenotypes in a GEFS(+) mouse model -
Generalized epilepsy with febrile seizures plus (GEFS^(+)) is an inherited epileptic disorder predominantly linked to autosomal-dominant, loss-of-function mutations in the sodium voltage-gated channel α subunit 1 (SCN1A) gene, which encodes the α subunit of the neuronal voltage-gated sodium ion channel type 1 (Na(V)1.1). Reduced Na(V)1.1 function in γ-aminobutyric acid (GABA)-ergic interneurons...
Beyond seizure control: Identifying deficits in cognitive networks in absence epilepsy -
Cognitive impairments are common in absence epilepsy, yet the neural basis of these deficits remains largely unknown. Communication between the thalamic reuniens nucleus and the prefrontal cortex is critical for flexible behavior. Here, we identify a disruption of this pathway in mice with absence epilepsy. This dysfunction leads to impaired cognitive flexibility and altered cortical inhibition...
Inhibition of aerobic glycolysis suppresses ferroptosis via activation of the AMPK-FoxO3a pathway in epileptic rats -
CONCLUSION: Inhibition of aerobic glycolysis attenuates seizure-induced ferroptosis through activation of the AMPK-FoxO3a pathway. These findings establish a mechanistic link between metabolic reprogramming and ferroptosis in epilepsy and suggest that targeting aerobic glycolysis may represent a promising therapeutic strategy for neuroprotection in epilepsy.
Insular morphological abnormalities in focal to bilateral tonic-clonic seizures -
CONCLUSION: Our results supported brain network abnormalities related to FBTCS and highlighted the value of insula, particularly its subregions, in identifying FBTCS+ patients and predicting lateralization at the individual level.
5-(Benzofuran-2-yl)-3-(2-chloro-4-fluorobenzyl)-1,3,4-oxadiazol-2(3H)-one (GM-90663) Alleviates Dravet Syndrome via Inhibiting Monoamine Oxidase Activity -
Dravet syndrome (DS) is a severe, catastrophic childhood epilepsy predominantly caused by loss-of-function mutations in the SCN1A gene, which encodes the voltage-gated sodium channel Na(v)1.1. In this study, we evaluated the therapeutic potential of 5-(Benzofuran-2-yl)-3-(2-chloro-4-fluorobenzyl)-1,3,4-oxadiazol-2(3H)-one (GM-90663), a novel small molecule designed to address the complex pathop...
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