Medical News Today
PubMed
Phenotypic heterogeneity within twins with MELAS with epilepsy: Case report -
RATIONALE: Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder caused by mutations in mitochondrial DNA, most commonly the m.3243A>G variant. This mutation impairs oxidative phosphorylation, leading to inadequate cellular energy production, particularly in high-demand tissues such as the brain and muscle...
Gut microbiota dynamics and its impact on the efficacy of ACTH therapy in infantile epileptic spasms syndrome -
CONCLUSION: Gut microbiota profiles in children with IESS suggested a potential association with response to ACTH therapy. These preliminary findings, while requiring validation in larger independent cohorts, highlight a potential role for the gut microbiota in the pathophysiology of IESS and underscore the need for further multi-omic investigations to elucidate underlying mechanisms.
Efficacy of intravenous immunoglobulin in children with drug-resistant epilepsy -
CONCLUSION: Long-term use of IVIG in pediatric patients can be an effective treatment for refractory seizures, even if exact mechanisms remain unclear.
The underlying mechanism of scorpion venom peptide BmK AS in reducing epilepsy seizures: mediated through dual modulation of Nav1.6 and the inflammasome pathway -
INTRODUCTION: Voltage-gated sodium channel (VGSC) dysregulation, particularly of the Nav1.6 subtype, is a core mechanism underlying epileptogenesis and its associated neuropsychiatric comorbidities. The scorpion venom peptide BmK AS has demonstrated anticonvulsant potential, but its efficacy in chronic epilepsy and the precise mechanisms of action remain undefined.
Clinician, patient, and carer views on neuromodulation for epilepsy: is there rationale for a randomised controlled trial of VNS vs. DBS? -
INTRODUCTION: This study aimed to gather UK clinician, patient, and carer perspectives on vagus nerve stimulation (VNS) and deep brain stimulation (DBS) to inform the design of clinical trials comparing these treatments for drug-resistant epilepsy (DRE).
Brivaracetam monotherapy in juvenile myoclonic epilepsy: a safety and efficacy evaluation -
CONCLUSION: This study suggests that BRV may offer promising efficacy, specifically in controlling myoclonic seizures and favorable tolerability as an off-label initial monotherapy for JME patients. While the evaluation of efficacy against GTCS requires longer follow-up, our findings support the potential of BRV as a therapeutic option for JME. Further randomized controlled trials are warranted...
Science Daily