11 documents found, page 1 of 2

Non-Invasive Cerebellar Stimulation in Hereditary Cerebellar Ataxias

Hereditary cerebellar ataxias (HCA) are a heterogeneous group of neurological disorders with several underlying genetic mechanisms. The available treatments are still scarce, however the growing interest in cerebellar neurostimulation has revealed promising results. We aimed to review the published studies on transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) in HCA. A li...

Mesial Temporal Lobe Epilepsy (MTLE) Drug-Refractoriness Is Associated With P2X...

Objective: ATP-gated ionotropic P2X7 receptors (P2X7R) actively participate in epilepsy and other neurological disorders. Neocortical nerve terminals of patients with Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) express higher P2X7R amounts. Overexpression of P2X7R bolsters ATP signals during seizures resulting in glial cell activation, cytokines production, and GABAergic rundown with unre...

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ...

Female preponderance in genetic generalized epilepsies

Introduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS). Methods: We performed a prospective observational study incl...

Immunogenetic protective factors in Genetic Generalized Epilepsy

Background: Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis. The ability to develop an appropriated immune response is strongly determined by immunogenetic factors. In this setting, our aim was to...

Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies

Background: Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies. There is a limited kno...

Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippo...

Purpose: Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1β and TNF-α, in mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated ...

Expression of Inflammation-Associated MicroRNAs in Epilepsy

Background: Neuroinflammation appears as an important epileptogenic mechanism. MicroRNAs (miRNA) are small non-coding RNA molecules that function as post-transcriptional regulators of gene expression, controlling different biological process including immune system homeostasis and function. Evidences, both in patients and animal studies, have demonstrated an abnormal brain expression of miR-146a and miR-155 in ...

Unverricht–lundborg disease: report of a new mutation

P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.

New splicing mutation in the cystatin B gene