4 research outputs found

    Effects of Lacosamide in Cerebral Tuberculoma-Induced Nonconvulsive Status Epilepticus: Case Report

    No full text
    Nonconvulsive status epilepticus (NCSE) is characterized by unexplained changes in behavior and mental status accompanied with continuous seizure activity seen on electroencephalography (EEG). Treatment is similar to treatment of status epilepticus. Lacosamide is one of the newer antiepileptic drugs (AEDs) that slow inactivation of voltage-dependent sodium channels. It has high oral bioavailability, is low protein binding and is primarily metabolized by the liver enzyme CYP2C19. Central nervous system (CNS) tuberculosis may present with signs of parenchymal lesions instead of meningitis. Presently described is a patient who was diagnosed as CNS tuberculosis a year ago with nonconvulsive status epilepticus. Status could be not be controlled with levetiracetam; however, use of lacosamide successfully resolved nonconvulsive status epilepticus

    Frequency of frontotemporal dementia-related gene variants in Turkey

    No full text
    Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD-related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VCP genes. Potential genetic associations were prospected in 16 patients (9.1%); five variants (p.(Gly35Glufs) and p.(Cys253Ter) in GRN; p.(Arg95Cys) in VCP; p.(Met405Val) in TARDBP and p.(Pro636Leu) in MAPT) were classified as pathogenic (P) or likely pathogenic (LP), in four familial and one sporadic patients. Three novel variants in MAPT, CHMP2B and FUS were also identified in familial cases. The most common pathogenic variants were observed in the GRN gene with a frequency of 1.14% (2/175) and this rate was 4.57% (8/175), including variants of uncertain significance (VUS). In this study with the largest cohort of Turkish FTD patients, GRN and MAPT variants were identified as the most common genetic associations; and rare causes like VCP, TARDBP, CHMP2B and FUS variants are recommended to be considered in patients with compatible clinical findings. (C) 2021 Elsevier Inc. All rights reserved
    corecore