Search results for "epilepsi"
showing 10 items of 64 documents
Kognitīvās funkcijas normatīvi veseliem bērniem, bērniem ar CSWS sindromu un citiem epilepsijas traucējumiem
2021
Šajā darbā ir apskatītas kognitīvās funkcijas, kurās ietilpst atmiņa, uzmanība, uztvere, vadības funkcijas un valoda, kā arī plašāk apskatīta epilepsija, tās ārstēšana, CSWS sindroms (epilepsija ar nepārtrauktiem smailajiem viļņiem miega laikā), kā arī epilepsijas saistība ar kognitīvajām funkcijām un UDHS (uzmanības deficīta un hiperaktivitātes sindroms). Šī pētījuma mērķis un uzdevums ir izprast un izzināt, vai bērniem ar CSWS sindromu un citiem epilepsijas traucējumiem vizuālās uzmanības, vizuālās un verbālās darba atmiņas, uztveres, vadības un motoro funkciju līmeņi tiek prognozēti zemāki, vai būs izteiktākas uzvedības problēmas, īpaši agresivitāte un hiperaktivitāte, kā arī, vai būs iz…
Alteraciones en la homeostasis del transportador de glutamato GLT-1 en la Enfermedad de Lafora
2017
Tesis doctoral, 192 páginas, figuras y tablas
Organized Sport Participation and Physical Activity Levels among Adolescents with Functional Limitations
2017
Sufficient and regular physical activity is considered a protective factor, reducing the onset of secondary disability conditions in adolescents with chronic diseases and functional limitations. The aim of this study was to explore whether participation in organized sport may be associated to higher levels of physical activity in adolescents with functional limitations, based on a national representative sample. Data from the Health Behaviour in School-aged Children (HBSC) study collected in Finland from two data collection rounds (2002 and 2010) were conducted and pooled from adolescents aged between 13 and 15 years old with functional limitations (n = 1041). Differences in self-reported p…
Regulación de la homeostasis del glucógeno: el papel de R6 y la enfermedad de Lafora
2016
El glucógeno es la principal reserva de energía en nuestras células y es una molécula esencial para nuestro cerebro. Sin embargo, muchas cuestiones sobre el complejo metabolismo de este carbohidrato siguen por elucidar. Un paso clave en la regulación de la homeostasis del glucógeno es el llevado a cabo por la proteína fosfatasa de tipo 1, PP1. PP1 es capaz de estimular la síntesis de glucógeno mediante la desfosforilación de dos enzimas clave: la glucógeno sintasa (GS) y la glucógeno fosforilasa (GP). La fosfatasa necesita unirse a subunidades reguladoras para el reconocimiento de los diferentes sustratos. En el metabolismo del glucógeno, se han descrito hasta la fecha 7 de estas subunidade…
Misdiagnosis and pitfalls in Panayiotopoulos syndrome
2019
Abstract Panayiotopoulos syndrome (PS) is a frequent (6% among children of 1–15 years) and benign epileptic syndrome, characterized by predominantly autonomic symptoms (emesis, pallor, flushing, cyanosis, mydriasis/miosis, cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility) associated with simple motor focal seizures, which can be followed by secondary generalization. Panayiotopoulos syndrome can be extremely insidious, because it can mimic several condition, such as gastroenteritis, gastroesophageal reflux disease, encephalitis, syncope, migraine, sleep disorders, or even metabolic diseases. This…
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
Pyridoxine dependent epilepsies: new therapeutical point of view
2017
Abstract Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it has rarely been described. The genes involved in PDEs are the gene encoding for the Alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) and PROSC gene, which encodes a pyridoxal-5-phosphate binding protein. Mutations in the gene encoding for the pyridoxal-5′-phosphate oxidase enzyme (PNPO) a…
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
2011
Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-dis…
Benign myoclonic epilepsy in infancy: neuropsychological and behavioural outcome
2003
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome of idiopathic generalized epilepsies with onset below 3 years of age. It has been reported that BMEI is associated with a good prognosis, however, recently some studies suggest less favourable neuropsychological outcome. We report a long-term follow-up of seven patients with BMEI. Seizure outcome and neuropsychological, cognitive, and behavioural evolution were discussed for each of them. At the end of follow-up, 86% of children showed neuropsychological and intellectual disorders: two children had mental retardation, three patients achieved a borderline IQ and one normal but low IQ. All but one displayed neuropsychological disa…
The safety and efficacy of add-on levetiracetam in elderly patients with focal epilepsy: A one-year observational study
2011
Abstract Purpose The long-term safety and efficacy of levetiracetam (LEV) was evaluated as add-on therapy in focal epilepsy patients ( n =491) aged at least 65 years who failed at least one monotherapy. Methods Patients ( n =491) with focal epilepsy treated with at least one antiepileptic drug in monotherapy with insufficient seizure control were included in this prospective open-label study. The recommended LEV dose range was 1000–3000mgperday. Follow-up visits were done approximately after 3, 6 and 12 months. Safety and efficacy was analysed based on all patients who received LEV (safety population, n =491) and all patients who were seen at all visits and completed the trial (per protocol…