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Genetic generalized epilepsies (GGEs) are thought to represent disorders of thalamocortical networks. There are currently no well-established non-pharmacologic treatment options for patients with drug-resistant GGE. NeuroPace's Responsive Neurostimulation (RNS) System was approved by the United States Food and Drug Administration to treat focal seizures with up to two ictal foci. We report on three adults with drug-resistant GGE who were treated with thalamic RNS. Given the severity of their epilepsies and the potential ictogenic role of the thalamus in the pathophysiology of GGE, the RNS System was palliatively implanted with leads in the bilateral anterior thalamic nuclei (ANT) of these patients. The ANT was selected because it was demonstrated to be a safe target. We retrospectively evaluated metrics including seizure frequency over 18-32 months. One patient required explantation due to infection. The other two patients were clinical responders. By the end of the observation period reported here, one patient was seizure-free for over 9 months. All three self-reported an improved quality of life. The clinical response observed in these patients provides 'proof-of-principle' that GGE may be treatable with responsive thalamic stimulation. Our results support proceeding to a larger study investigating the efficacy and safety of thalamic RNS in drug-resistant GGE.
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http://dx.doi.org/10.3390/brainsci13020324 | DOI Listing |
J Trop Med
November 2024
School of Allied Health Sciences, Walailak University, Nakhon Si Thammarat 80160, Thailand.
Malaria remains a critical global health issue, particularly in tropical and subtropical regions. The disease, caused by parasites, is transmitted by mosquitoes and can lead to severe complications and death if untreated. The emergence of drug-resistant strains highlights the urgent need for new antimalarial agents.
View Article and Find Full Text PDFPLoS One
April 2024
Department of Biology, Faculty of Arts and Sciences, Holy Spirit University of Kaslik-Jounieh, Lebanon.
Introduction: Juvenile Myoclonic Epilepsy (JME) is a prevalent form of epileptic disorder, specifically categorized within the realm of Genetic Generalized Epilepsy (GGE). Its hallmark features encompass unprovoked bilateral myoclonus and tonic-clonic seizures that manifest during adolescence. While most JME patients respond favorably to anti-seizure medication (ASM), a subset experiences refractory JME, a condition where seizures persist despite rigorous ASM treatment, often termed "Drug-Resistant Epilepsy" (DRE).
View Article and Find Full Text PDFRev Neurol (Paris)
April 2024
Epileptology and Cerebral Rythmology, AP-HM, Timone hospital, Marseille, France; Aix Marseille Univ, Inserm, INS, Inst Neurosci Syst, Marseille, France. Electronic address:
The persistence of typical absence seizures (AS) in adolescence and adulthood may reduce the quality of life of patients with genetic generalized epilepsies (GGEs). The prevalence of drug resistant AS is probably underestimated in this patient population, and treatment options are relatively scarce. Similarly, atypical absence seizures in developmental and epileptic encephalopathies (DEEs) may be unrecognized, and often persist into adulthood despite improvement of more severe seizures.
View Article and Find Full Text PDFNeurol Clin Pract
April 2023
Department of Neurology (SA, GW, JB, ECW, KCN, GDC, DB), Mayo Clinic, Rochester, MN; Department of Neurology (KN), Mayo Clinic, Scottsdale, AZ; and Department of Neurology (AR), Mayo Clinic, Jacksonville, FL.
Background And Objectives: Cenobamate (CNB) is a United States Food and Drug Administration-approved antiseizure medication (ASM) for focal-onset seizures; however, its potential clinical effectiveness as a broad-spectrum ASM is not established. CNB has a proposed dual mechanism of action with preferential blockade of persistent sodium currents and positive allosteric modulation of the γ-aminobutyric acid-A (GABA-A) receptor. We evaluated the efficacy of CNB in drug refractory patients with genetic generalized epilepsies (GGE) or combined generalized and focal epilepsies (CGFE), including developmental and epileptic encephalopathies.
View Article and Find Full Text PDFEpilepsia
June 2023
Department of Human Neurosciences, Sapienza, University of Rome, Rome, Italy.
Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex.
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