Search results for "Lep"

Copy number variations in the etiology of epilepsy

2013

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transp…

ROLE OF SEROTONIN1A/2A/2C RECEPTORS IN THE MODULATION OF NORMAL AND PATHOLOGICAL HIPPOCAMPAL EXCITABILITY

2015

Dopaminergic control of feline hippocampal epilepsy: A nigrophippocampal pathway

1991

Abstract Substantia nigra is a mesencephalic structure inserted along several circuits which appear to play a key role in epilepsy. In previous researches we postulated that substantia nigra pars compacta (SNpc) may be the site of a precise control of hippocampal epilepsy while substantia nigra pars reticulata (SNpr) may exert a modulation of both neocortical epilepsy and spreading of hyperactivity toward a motor target. In order to better understand mechanisms subserving nigral action in feline hippocampal epilepsy we electrically stimulated SNpc (dopaminergic), before and after sulpiride (dopamine receptor-antagonist) intravenous injection. Furthermore we compared hippocampal epileptiform…

A feature of caudate control of focal hippocampal epilepsy: evidence for an anterograde pathway

1991

Previous experimental evidences showed that the caudate nucleus has a modulatory effect on hippocampal epilepsy. The caudate's regulating action might reach the hippocampus either via the septal region or, retrogradely, via the accumbens nucleus. In order to obtain new data about the pathway involved in caudate hippocampal influence the spreading of abnormal activity towards the nucleus accumbens was studied. Furthermore the effects of caudate stimulation in animals with electrolytic lesions of the nucleus accumbens were analyzed. It was observed that abnormal penicillin-induced activity spreaded from the hippocampus to the nucleus accumbens in about 30 minutes. In animals with and without …

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

2021

AbstractBackgroundDravet 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.MethodsA 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 quantification. Pro…

Mutant Plasticity Related Gene 1 (PRG1) acts as a potential modifier in SCN1A related epilepsy

2018

ABSTRACTPlasticity related gene 1 encodes a cerebral neuron-specific synaptic transmembrane protein that modulates hippocampal excitatory transmission on glutamatergic neurons. In mice, homozygous Prg1-deficiency results in juvenile epilepsy. Screening a cohort of 18 patients with infantile spasms (West syndrome), we identified one patient with a heterozygous mutation in the highly conserved third extracellular phosphatase domain (p.T299S). The functional relevance of this mutation was verified by in-utero electroporation of a mutant Prg1 construct into neurons of Prg1-knockout embryos, and the subsequent inability of hippocampal neurons to rescue the knockout phenotype on the single cell l…

Disfunzioni sessuali, farmaci antiepilettici e profilo ormonale sierico negli uomini affetti da epilessia. Sexual disfunctions, antiepileptic drugs, …

2012

Sexual dysfunctions (SD) are a relatively common problem in men with epilepsy; the prevalence ranges from 38-71%. Etiology may be multifactorial and may involve both the epilepsy and the use of antiepileptic drugs. The purpose of this study was to evaluate the incidence of SD in epileptic men, assessing the type of epilepsy, seizures frequency, antiepileptic drugs used, the serum hormonal profile and the presence of psychiatric disorders.

Epileptic Crisis by Pneumoencephalon as the First Manifestation of an Ethmoid-Frontal Osteoma

2019

Radiosurgery of Epilepsy

1993

Since 1982 a series of 11 epileptic patients have been treated with stereotactic radiosurgery. Patients were intracranially recorded with cortical and deep electrodes until the location of the epileptogenic focus was determined. A deep electrode was stereotactically placed at this point to confirm the accuracy of the location. All patients received radiosurgery with a gamma source and a dose of 10 to 20 Gy, except two of them in which a betatron was used. The results were: Total disappearance of the crises and withdrawal of medication: 4 cases (36%). More than 80% reduction of crises: 3 cases (27%). More than 50% reduction of crises: 2 cases (18%). Less than 50% reduction of crises: 2 cases…

Improved GNSS positioning exploiting a vehicular P2P infrastructure

2010

This paper considers the possibility to exploit external altitude measurements to improve the performance of a Kalman based GNSS receiver. The altitude measurements are provided by means of a peer to peer network, that is supposed to be based on the evolution of the 802.11 standard for the vehicular environment, namely the WAVE (802.11p). The performance of such a system are investigated for different characteristics of the aiding measurement and for a different number and disposals of the aiding peers. The aiding measurement is obtained starting from the altitude measurements that the other peers in the network send to the aided user. The experiments highlight the need for a parameter that…