Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of CLN2 Batten disease

SUMMARY

This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late-infantile neuronal ceroid lipofuscinosis (NCL) type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure® (BTS), a sponsored genetic testing program (Cohort A), were compared to children outside of the sponsored testing program during the same period (Cohort B). Two cohorts were analyzed: children aged ≥24 to ≤60 months with unprovoked seizure onset ≥24 months between December 2016 and January ...

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Classification of antiseizure drugs in cultured neuronal networks using multi‐electrode arrays and unsupervised learning

Abstract

Objective

Antiseizure drugs (ASDs) modulate synaptic and ion channel function to prevent abnormal hypersynchronous or excitatory activity arising in neuronal networks, but the relationship between ASDs with respect to their impact on network activity is poorly defined. In this study, we first investigated if different ASD classes exert differential impact upon network activity, and we then sought to classify ASDs according to their impact on network activity.

Methods

We used multi-electrode arrays (MEAs) to record the network activity of cultured cortical neurons after ...

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Cognitive Phenotypes in Frontal Lobe Epilepsy

Summary

Objective

Neuropsychological profiles are heterogeneous both across and within epilepsy syndromes, but especially in frontal lobe epilepsy (FLE), which has complex semiology and epileptogenicity. This study aimed to characterize the cognitive heterogeneity within FLE by identifying cognitive phenotypes and determining their demographic and clinical characteristics.

Method

106 patients (age 16-66; 44% female) with FLE completed comprehensive neuropsychological testing, including measures within five cognitive domains: language, attention, executive function, processing speed, and verbal/visual learning. Patients were categorized into one of four phenotypes based on ...

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Seizure forecasting using minimally invasive, ultra‐long‐term subcutaneous electroencephalography: Individualized intrapatient models

Abstract

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 electroencephalogram (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 focal ...

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Seizure detection with deep neural networks for review of two‐channel EEG

SUMMARY

Ultra long-term EEG registration using minimally invasive low-channel devices is an emerging technology to assess sporadic seizure events. Highly sensitive automatic seizure detection algorithms are needed for semi-automatic evaluation of these prolonged recordings. We describe the design and validation of a deep neural network for two-channel seizure detection. The model is trained using EEG recordings from 590 patients in a publicly available seizure database. These recordings are based on the full 10-20 electrode system and include seizure annotations created by ...

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The Association between Family History of Alcohol Use Disorder and Catamenial Epilepsy

Summary

The purpose of this investigation was to determine whether a family history of alcohol use disorder (AUD) might be a risk factor and possible clinical biomarker for catamenial epilepsy. The retrospective case-control data came from 119 women, ages 13-48 years, with intractable seizures. We report the relative risk for positive family history of AUD among women with catamenial epilepsy (Group 1) relative to women with non-catamenial epilepsy (Group 2). The risk ratio (RR) for positive AUD history for Group 1 ...

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Quantitative Analysis of Visually Reviewed Normal Scalp EEG Predicts Seizure Freedom Following Anterior Temporal Lobectomy

Abstract

Objective

Anterior temporal lobectomy (ATL) is a widely performed and successful intervention for drug-resistant temporal lobe epilepsy (TLE). However, up to a third of patients experience seizure recurrence within one year after ATL. Despite the extensive literature on presurgical EEG and MRI abnormalities to prognosticate seizure freedom following ATL, the value of quantitative analysis of visually reviewed normal interictal EEG in such prognostication remains unclear. In this retrospective multicenter study, we investigate whether machine learning analysis of normal interictal scalp EEGs ...

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Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings

Abstract

Objective

Genetic generalized epilepsy is characterized by aberrant neuronal dynamics and subtle structural alterations. We evaluated whether a combination of magnetic and electrical neuronal signals and cortical thickness would provide complementary information about network pathology in GGE. We also investigated if these imaging phenotypes were present in healthy siblings of the patients to test for genetic influence.

Methods

In this cross-sectional study, we analyzed five minutes of resting-state data acquired using electroencephalography (EEG) and magnetoencephalography (MEG) in patients, their siblings, and controls, matched ...

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