Search results for "epilepsi"

Proteomic signature of the Dravet syndrome in the genetic Scn1a-A1783V mouse model.

2021

Abstract Background Dravet syndrome is a rare, severe pediatric epileptic encephalopathy associated with intellectual and motor disabilities. Proteomic profiling in a mouse model of Dravet syndrome can provide information about the molecular consequences of the genetic deficiency and about pathophysiological mechanisms developing during the disease course. Methods A knock-in mouse model of Dravet syndrome with Scn1a haploinsufficiency was used for whole proteome, seizure, and behavioral analysis. Hippocampal tissue was dissected from two- (prior to epilepsy manifestation) and four- (following epilepsy manifestation) week-old male mice and analyzed using LC-MS/MS with label-free quantificati…

Social cognition and executive functions in children and adolescents with focal epilepsy

2020

Objectives: Deficits in facial emotion recognition and Theory of Mind are frequent in patients with epilepsy. Although this evidence, studies on pediatric age are few and the relation between these abilities and other cognitive domain remains to be better elucidated. The purpose of our study is to evaluate facial emotion recognition and Theory of Mind in children and adolescents with focal epilepsy, and correlate them with intelligence and executive functions. Materials and methods: Our work is a cross-sectional observational study. Sixty-two children and adolescents aged between 7-16 years diagnosed by focal epilepsy and 32 sex/age-matched controls were recruited. All participants were adm…

Non-convulsive status epilepticus associated with tiagabine in a pediatric patient

2003

We report a 4-year-old patient who developed non-convulsive status epilepticus (NCSE) following tiagabine (TGB) as add-on treatment for refractory partial seizures. NCSE occurred while the patient received TGB 0.83mg/kg/day. In our case, the TGB reduction led to a significant improvement of electroclinical features. The mechanisms of this abnormal effect are not clear. GABA-ergic hyperfunction and/or multiplicity of interlinked brain GABA systems associated with individual specific sensitivity could play a critical role in the pathogenesis of NCSE. This is the first report of NCSE documented by electroencephalogram (EEG) in a child under 12 years of age on TGB treatment. © 2003 Elsevier Sci…

Role of Associated Cortical Lesions in Motor Partial Seizures and Lenticulostriate Infarcts

1995

In a population-based study, we evaluated seizures occurring in the first 15 days after strokes among 1,640 consecutive patients who had ischemic (814 infarcts with atheroma and 126 with cardiogenic embolism, 273 lacunar infarcts, 259 transient ischemic attacks) or hemorrhagic stroke (129 supratentorial hematomas and 24 subarachnoïd hemorrhage) on computed tomography (CT) scan. Ninety patients had an epileptic seizure in the first 15 days after stroke onset. Thirteen of the 90 had a lenticulostriate infarct, diagnosed on CT scan, without an apparent ipsilateral cortical ischemic lesion. No lenticulostriate hematoma was observed with seizures. To determine the possible existence of an ipsila…

A randomized, double-blind comparison of antiepileptic drug treatment in the elderly with new-onset focal epilepsy.

2015

Objective: To compare the effectiveness of controlled-released carbamazepine (CR-CBZ) to levetiracetam (LEV) and to lamotrigine (LTG) in elderly patients with newlydiagnosedfocalepilepsy.Methods: Randomized, double-blind, parallel-group trial conducted between January2007andAugust2011,in47ambulatoryorhospitalsitesinGermany,Austria,orSwit-zerland. Eligible participants were aged ≥60, had new-onset epilepsy, had no acute ill-nessasthecauseoftheirseizures,andhadnocontraindicationtothedrugsinthetrial.Patients were randomized 1:1:1 to CR-CBZ, LTG, or LEV. Doses were up-titrated for6 weeks and could be maintained or adjusted depending on seizure relapse or tolera-bility over an additional period …

Izmaiņas elektroencefalogrammā un neirovizualizācijas metodēs pie ģeneralizētas krampju lēkmes

2017

Mērķis: Noskaidrot atšķirības interiktālā elektroencefalogrāfijā (EEG) pierakstītā smadzeņu pamatritmā, efektu no pielietotiem aktivācijas manevriem un izmaiņām neirovizualizācijā starp epilepsijas pacientiem ar ģeneralizētu krampju lēkmi anamnēzē bez epileptiskas aktivitātes interiktālā EEG(Grupa Nr.2) un ar epiletisku aktivitāti interiktālā EEG(Grupa Nr.1). Materiāli un metodes: Paula Stradiņa Klīniskās universitātes slimnīcas arhīvā tika atlasītas slimības vēstures pacientiem, kuri sirgst ar epilepsiju. Pacienti tika izvēlēti pēc pētījumā izvirzītajiem dalības kritērijiem. Tika izveidotas divas grupas, kuru dalībniekiem bija analizētas interiktālā EEG pieraksta pamatritma izmaiņas, aktiv…

Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy

2011

Abstract Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1–2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new elec…

Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics

2015

Neuroserpin (NS) is a serine protease inhibitor (SERPIN) involved in different neurological pathologies, including the Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB), related to the aberrant polymerization of NS mutants. Here we present an in vitro and in silico characterization of native neuroserpin and its dysfunctional conformation isoforms: the proteolytically cleaved conformer, the inactive latent conformer, and the polymeric species. Based on circular dichroism and fluorescence spectroscopy, we present an experimental validation of the latent model and highlight the main structural features of the different conformers. In particular, emission spectra of aromatic res…

Psichiatrija: speciālā daļa [Psihiatrija...]

1929

Topiramate and Metabolic Acidosis in Infants and Toddlers

2002

Summary:  Purpose: Topiramate (TPM) inhibits carbonic anhydrase, with metabolic acidosis as a possible side effect, although this has been reported in only two adult cases. We investigated the acid–base metabolism in infants and toddlers treated with TPM. Methods: Nine infants and toddlers aged 5 months to 2.3 years (median, 6 months) were treated with TPM at maximal doses of 8.2–26 mg/kg/day (median, 11 mg/kg/day). The maximal TPM dose was achieved after 8–35 days (median, 17 days). TPM was given in addition to other antiepileptic drugs (AEDs) in five cases and as a sole AED in four patients with refractory epilepsy resistant to multiple AEDs. The diagnoses were infantile spasms (n = 5), e…