Rare SUDEP SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death

Summary

Sudden Unexpected Death in Epilepsy (SUDEP) is a leading cause of premature death in epilepsy. The underlying pathological mechanisms are likely to be multi-factorial. Cardiac arrhythmia has been suggested as a cause of death in some patients with SUDEP. SCN5A encodes the cardiac Nav1.5 sodium channel. SCN5A variants that result in either loss or gain of channel function cause cardiac arrhythmias. Rare SCN5A variants have been reported in SUDEP cases but the impact of these variants on channel function is ...

Seguir leyendo →
0

Seizure forecasting using minimally‐invasive, ultra long‐term subcutaneous EEG: (1) Individualized intra‐patient models

Summary

Objective

One of the most disabling aspects of living with chronic epilepsy is the unpredictability of seizures. Cumulative research in the past decades has advanced our understanding of the dynamics of seizure risk. Technological advances have recently made it possible to record pertinent biological signals, including EEG, continuously. We aimed to assess whether patient-specific seizure forecasting is possible using remote, minimally invasive ultra long-term subcutaneous EEG.

Methods

We analyzed a two-center cohort of ultra long-term subcutaneous EEG recordings, including six patients with drug-resistant ...

Seguir leyendo →
0

Ambient air pollution and epileptic seizures: a panel study in Australia

Abstract

Objective

Emerging evidence has shown that ambient air pollution affects brain health, but little is known about its effect on epileptic seizures. This work aimed to assess the association between daily exposure to ambient air pollution and the risk of epileptic seizures.

Methods

This study used epileptic seizure data from two independent data sources (NeuroVista and Seer App seizure diary). In the NeuroVista dataset, 3273 seizures were recorded using intracranial electroencephalography (iEEG) from 15 participants with refractory focal epilepsy in Australia in 2010-2012. ...

Seguir leyendo →
0

COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences

Abstract

Objectives

Vaccination against SARS-CoV-2 virus is a primary tool to combat the COVID-19 pandemic. However, vaccination is a common seizure trigger in individuals with Dravet syndrome (DS). Information surrounding COVID-19 vaccines side-effects in patients with DS would aid caregivers and providers in decisions for and management of COVID-19 vaccination.

Methods

A survey was emailed to the Dravet Syndrome Foundation’s (DSF) Family Network and posted to the Dravet Parent & Caregiver Support Group on Facebook between May and August 2021. Deidentified information obtained included ...

Seguir leyendo →
0

Headache in idiopathic/genetic epilepsy: Cluster analysis in a large cohort

Abstract

Objective

The link between headache and epilepsy is more prominent in patients with idiopathic/genetic epilepsy (I/GE). We aimed to investigate the prevalence of headache and to cluster patients with regard to their headache and epilepsy features.

Methods

Patients aged 6–40 years, with a definite diagnosis of I/GE, were consecutively enrolled. The patients were interviewed using standardized epilepsy and headache questionnaires, and their headache characteristics were investigated by experts in headache. Demographic and clinical variables were analyzed, and patients were clustered according to their epilepsy ...

Seguir leyendo →
0

Diffusion tractography predicts propagated high‐frequency activity during epileptic spasms

Summary

Objective

Determine the structural networks that constrain propagation of ictal oscillations during epileptic spasm events, and compare observed propagation patterns across patients with successful or unsuccessful surgical outcomes.

Methods

Subdural electrode recordings of 18 young patients (age 1–11 years) were analyzed during epileptic spasm events to determine ictal networks and quantify the amplitude and onset time of ictal oscillations across the cortical surface. Corresponding structural networks were generated with diffusion MRI tractography by seeding the cortical region associated with the earliest average oscillation ...

Seguir leyendo →
0

Lack of Clinically Relevant Differences in Safety and Pharmacokinetics After Second‐Dose Administration of Intranasal Diazepam Within 4 Hours for Acute Treatment of Seizure Clusters: A Population Analysis

Summary

Objective

Current diazepam nasal spray labeling requires waiting 4 hours before administering a second dose. The objective of the current analyses was to examine safety and pharmacokinetic profiles of second doses of diazepam nasal spray given 0−4 hours after first dose.

Methods

Two data sets were analyzed. The first, a long-term, repeat-dose safety study of diazepam nasal spray, compared rates of treatment-emergent adverse events (TEAEs), serious TEAEs, and treatment-related TEAEs for patients receiving ≥1 second dose ≤4 hours vs all second doses >4 ...

Seguir leyendo →
0

Big data analysis of ASM retention rates and expert ASM algorithm: A comparative study

Abstract

Objective

Only 50% of patients with new-onset epilepsy achieve seizure freedom with their first antiseizure medication (ASM). A growing body of data illustrates the complexity of predicting ASM response and tolerability, which is influenced by age, sex, and comorbidities. Randomized data with sufficient resolution for personalized medicine are unlikely to emerge. Two potential facilitators of ASM selection are big data using real-world retention rates or algorithms based on expert opinion. We asked how these methods compare in adult-onset focal epilepsy.

Methods

ASM retention ...

Seguir leyendo →
0

Susceptibility to epilepsy after traumatic brain injury is associated with preexistent gut microbiome profile

Summary

Objective

We examined whether post-traumatic epilepsy (PTE) is associated with measurable perturbations in gut microbiome.

Methods

Adult Sprague-Dawley rats were subjected to Lateral Fluid Percussion Injury (LFPI). PTE was examined 7 months after LFPI, during a 4-week continuous video-EEG monitoring. 16S ribosomal ribonucleic acid gene sequencing was performed in fecal samples collected before LFPI/sham-LFPI and 1 week, 1 and 7 months thereafter. Longitudinal analyses of alpha diversity, beta diversity, and differential microbial abundance were performed. Short-chain fatty acids (SCFA) were measured in fecal ...

Seguir leyendo →
0

Deep learning resting state functional magnetic resonance imaging lateralization of temporal lobe epilepsy

Abstract

Objective

Localization of focal epilepsy is critical for surgical treatment of refractory seizures. There remains a great need for noninvasive techniques to localize seizures for surgical decision-making. We investigate the use of deep learning using resting state functional magnetic resonance imaging (RS-fMRI) to identify the hemisphere of seizure onset in temporal lobe epilepsy (TLE) patients.

Methods

A total of 2132 healthy controls and 32 preoperative TLE patients were studied. All participants underwent structural MRI and RS-fMRI. Healthy control data were used to generate ...

Seguir leyendo →
0
Página 4 de 170 «...23456...»