Search results for "epilepsy"

The analysis of SUDEP forensic autopsies leading to preventable events

2023

Introduction: The diagnosis of unexpected death by excluding non-natural causes, particularly in subjects with epilepsy, is a topic of interest and it is difficult to identify in the forensic field. Health professionals sometimes are faced with cases of sudden death, generally in young adults with a long history of epilepsy that require, for judicial purposes, an explanation in terms of cause and means to determine the death. SUDEP is an entity diagnosed by the exclusion of other causes that may have led to death, and then for forensic purposes, it requires particular attention and knowledge, and there is difficulty in identifying it. Our contribution aims to illustrate the scientific commu…

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy

2021

Abstract Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition is linked to epilepsy. Gephyrin (Geph) is the principal scaffolding protein at inhibitory synapses and is essential for postsynaptic clustering of glycine (GlyRs) and GABA type A receptors. Consequently, gephyrin is crucial for maintaining the relationship between excitation and inhibition in normal brain function and mutations in the gephyrin gene (GPHN) are associated with neurodevelopmental disorders and epilepsy. We identified bi-allelic variants in the GPHN gene, namely the missense mutation c.1264G > A and splice acceptor variant c.1315-2A > G, in a patient wi…

Information flow in EEG source networks in epileptic children with focal seizure activity

2019

Scalp electroencephalographic (EEG) signals are influenced by several factors, including volume conduction and low spatial resolution, which can jeopardize the validity of brain connectivity analysis performed on the raw recordings. One possible solution is to identify, starting from scalp EEG signals, the underlying cortical source activations, and to apply connectivity metrics on the reconstructed source time series. In this work, the dynamics of information flow between cortical EEG signals obtained after source reconstruction were assessed in children suffering from focal epilepsy. In a group of 10 children with focal seizures, 5-second windows of the 19-channel EEG were obtained in the…

Ketogenic diet as antiepileptic therapy: Neurotrasmission effects

2017

The Ketogenic diet (KD) presents many effects on neurostrasmitters pathways. KD may act on potassium channels sensitive to ATP (KATP), inhibiting rapamycin pathway in mammalians or glutamatergic synaptic transmission or mediated by peptide hormones.

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

2012

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? is an age-dependent epilepsy with onset peak in the first year of life. According to the ILAE classification, the etiology of WS could be symptomatic or cryptogenic. An idiopathic etiology was considered too. In literature, there was never previously described a transition from WS to JME. Methods: The proband, (male) was referred to our Department at the age of 8 months because he showed clusters of symmetric spasms. Interictal EEG recording displayed an hypsarrhythmic pattern. The clinical and EEG data suggested WS diagnosis. At 1 year of age increasing long and thick hair in both elbow regions was observed. …

Whole-brain histogram and voxel-based analyses of apparent diffusion coefficient and magnetization transfer ratio in celiac disease, epilepsy, and ce…

2007

BACKGROUND AND PURPOSE: Diffusion and magnetization transfer (MT) techniques have been applied to the investigation with MR of epilepsy and have revealed changes in patients with or without abnormalities on MR imaging. We hypothesized that also in the coeliac disease (CD), epilepsy and cerebral calcifications (CEC) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy. MATERIALS AND METHODS: Diffusion and MT weighted images were obtained in 10 patients with CEC, 8 patients with CD without epilepsy and 17 healthy volunteers. The whole brain apparent diffusion coefficient (ADC) and MT ratio (MTR) maps were analyze…

Emotion recognition in temporal lobe epilepsy and idiopathic generalized epilepsy

2012

INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…

2016

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Unusual paroxysmal autonomic manifestations in a 22 month old girl

2014

Mutual Information Analysis of Brain-Heart Interactions in Epileptic Children

2021

In this work we apply the network physiology paradigm to retrieve information from central and autonomic nervous systems before focal epileptic seizure, represented respectively by electroencephalogram (EEG) signals and R-R intervals (RRI), and investigate on the presence and strength of brain-heart interactions by computing mutual information (MI) measures. Statistical significance of MI values was tested through surrogate time series generated with the random shuffle approach. Our results suggest that the proposed method for aligning signals representing brain and heart activity measured with different sampling rates, is capable of revealing coupling between RRI representing heart system,…