Search results for "eps"
showing 10 items of 1777 documents
The inhibitory neural circuitry as target of antiepileptic drugs.
2001
Impairments and defects in the inhibitory neurotransmission in the CNS can contribute to various seizure disorders, i.e., gamma-aminobutyric acid (GABA) and glycine as the main inhibitory neurotransmitters in the brain play a crucial role in some forms of epilepsy. Recent advances in deciphering the molecular basis of the GABAergic and glycinergic systems has been achieved by means of cloning techniques and gene targeting strategies in animals, contributing to the understanding of drug action. As well, several anticonvulsive substances emerged which target key molecules of the inhibitory systems. Employment of recombinant expression systems, including, but not restricted to the inhibitory c…
Lack of SCN1A Mutations in Familial Febrile Seizures
2002
Summary: Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…
Alteraciones en la homeostasis del transportador de glutamato GLT-1 en la Enfermedad de Lafora
2017
Tesis doctoral, 192 páginas, figuras y tablas
Complete gangrene of penis in patient with arterial vascular disease.
2004
We present a clinical case of distal penile gangrene in a patient with peripheral vaso-occlusive disease that did not correlate with the extension of the intraoperative finding and required total penectomy. Surgical intervention at the onset of wet gangrene avoids the complication of sepsis.
Adaptation to host inVibrio vulnificus, a zoonotic pathogen that causes septicemia in fish and humans
2019
Vibrio vulnificus is a siderophilic pathogen spreading due to global warming. The zoonotic strains constitute a clonal-complex related to fish farms that are distributed worldwide. In this study, we applied a transcriptomic and single gene approach and discover that the zoonotic strains bypassed the iron requirement of the species thanks to the acquisition of two iron-regulated outer membrane proteins (IROMPs) involved in resistance to fish innate immunity. Both proteins have been acquired by horizontal gene transfer and are contributing to the successful spreading of this clonal-complex. We have also discovered that the zoonotic strains express a virulent phenotype in the blood of its main…
Analysis of the axial filament in spicules of the demosponge Geodia cydonium: different silicatein composition in microscleres (asters) and megascler…
2007
The skeleton of the siliceous sponges (Porifera: Hexactinellida and Demospongiae) is supported by spicules composed of bio-silica. In the axial canals of megascleres, harboring the axial filaments, three isoforms of the enzyme silicatein (-alpha, -beta and -gamma) have been identified until now, using the demosponges Tethya aurantium and Suberites domuncula. Here we describe the composition of the proteinaceous components of the axial filament from small spicules, the microscleres, in the demosponge Geodia cydonium that possesses megascleres and microscleres. The morphology of the different spicule types is described. Also in G. cydonium the synthesis of the spicules starts intracellularly …
Limited behavioural effects of ocean acidification on a Mediterranean anemone goby (Gobius incognitus) chronically exposed to elevated CO2 levels
2022
An in situ reciprocal transplant experiment was carried around a volcanic CO2 vent to evaluate the anti-predator responses of an anemone goby species exposed to ambient (∼380 μatm) and high (∼850 μatm) CO2 sites. Overall, the anemone gobies displayed largely unaffected behaviors under high-CO2 conditions suggesting an adaptive potential of Gobius incognitus to ocean acidification (OA) conditions. This is also supported by its 3-fold higher density recorded in the field under high CO2. However, while fish exposed to ambient conditions showed an expected reduction in the swimming activity in the proximity of the predator between the pre- and post-exposure period, no such changes were detected…
Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.
2013
No abstract available
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
2021
AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…
Complete Genome Sequence of “Candidatus Tremblaya princeps” Strain PCVAL, an Intriguing Translational Machine below the Living-Cell Status
2011
ABSTRACT The sequence of the genome of “ Candidatus Tremblaya princeps” strain PCVAL, the primary endosymbiont of the citrus mealybug Planococcus citri , has been determined. “ Ca . Tremblaya princeps” presents an unusual nested endosymbiosis and harbors a gammaproteobacterial symbiont within its cytoplasm in all analyzed mealybugs. The genome sequence reveals that “ Ca . Tremblaya princeps” cannot be considered an independent organism but that the consortium with its gammaproteobacterial symbiotic associate represents a new composite living being.