Recognition and epileptology of protracted CLN3 disease

Abstract

Objective

This study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder.

Methods

We analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease. Haplotype analysis was performed in three reportedly unrelated families.

Results

Visual impairment was the initial symptom, with onset at 5–9 years, similar to classic CLN3 disease. Mean time from onset of visual impairment to seizures was 12 years (range = 6–41 years). Various seizure types were reported, most commonly generalized tonic–clonic ...

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Long term epilepsy outcome dynamics revealed by natural language processing of clinic notes

Abstract

Objective

Electronic medical records allow for retrospective clinical research with large patient cohorts. However, epilepsy outcomes are often contained in free text notes that are difficult to mine. We recently developed and validated novel natural language processing (NLP) algorithms to automatically extract key epilepsy outcome measures from clinic notes. In this study, we assessed the feasibility of extracting these measures to study the natural history of epilepsy at our center.

Methods

We applied our previously validated NLP algorithms to extract seizure freedom, seizure ...

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Automated, Machine Learning‐Based Alerts Increase Epilepsy Surgery Referrals: A Randomized Controlled Trial

Abstract

Objective

To determine whether automated, electronic alerts increased referrals for epilepsy surgery.

Methods

We conducted a prospective, randomized controlled trial of a natural language processing-based clinical decision support system embedded in the electronic health record (EHR) at 14 pediatric neurology outpatient clinic sites. Children with epilepsy and at least two prior neurology visits were screened by the system prior to their scheduled visit. Patients classified as a potential surgical candidate were randomized 2:1 for their provider to receive an alert or standard of ...

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Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy

Abstract

Genetic variants in KCNQ2 are associated with a range of epilepsies, from self- limited (familial) neonatal-infantile epilepsy to developmental and epileptic encephalopathy (DEE). We retrospectively reviewed clinical data from eight patients with KCNQ2-related DEE who were treated with ezogabine. Treatment was initiated at a median age of 8 months (range 7 weeks to 2.5 years) and continued for a median of 2.6 years (range 7 months to 4.5 years). Five individuals had daily seizures at baseline and experienced at least 50% seizure reduction with ...

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Intracerebroventricular administration for delivery of antiseizure therapeutics: Challenges and opportunities

SUMMARY

Intracerebroventricular (ICV) administration is being increasingly explored as a means for delivering antiseizure and antiepileptic therapies to epileptic brain tissue. This route bypasses the BBB, thus enabling the delivery of therapeutics that are restricted from the brain, while reducing the risk of systemic adverse reactions. Nevertheless, projections from studies in patients with other diseases suggest that efficacy of some ICV-delivered therapeutics may be limited when the epileptogenic tissue or network circuits are localized more than a few millimeters away from ...

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Domain‐specific relationships of subjective and objective cognition in epilepsy

Abstract

Objective

Many people with epilepsy report subjective cognitive impairment (SCI), i.e., problems with memory, attention or executive functions, reducing quality of life. Nevertheless, overlap with objective cognitive impairment (OCI) is often weak. One reason may be a domain-specific mismatch between subjective reports and objective tests. We aimed to evaluate relations between SCI and OCI of corresponding domains and to assess whether these differ between persons that over- or underestimate their performance.

Methods

In this prospective, cross-sectional sample of 104 adult in-patients with epilepsy, ...

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SUDEP counseling: Where do we stand?

Abstract

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death in children and adults living with epilepsy. Several recent clinical practice guidelines have recommended that all individuals living with epilepsy and their caregivers be informed about SUDEP as a part of routine epilepsy counseling. Furthermore, several studies over the last two decades have explored the state of SUDEP counseling. Patients with epilepsy and their families want to be informed about the risk of SUDEP at or near ...

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Neocortical and medial temporal seizures have distinct impacts on brain responsiveness

Abstract

Focal epileptic seizures are characterized by abnormal neuronal discharges that can spread to other cortical areas and interfere with brain activity, thereby altering the patient’s experience and behavior. The origin of these pathological neuronal discharges encompasses various mechanisms that converge toward similar clinical manifestations. Recent studies have suggested that medial temporal lobe (MTL) and neocortical (NC) seizures are often underpinned by two characteristic onset patterns, which, respectively, affect and spare synaptic transmission in cortical slices. However, these synaptic alterations and ...

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Seizure occurrence is linked to multiday cycles in diverse physiological signals

Abstract

Objectives

The factors that influence seizure timing are poorly understood, and seizure unpredictability remains a major cause of disability. Work in chronobiology has shown that cyclical physiological phenomena are ubiquitous, with daily and multiday cycles evident in immune, endocrine, metabolic, neurological, and cardiovascular function. Additionally, work with chronic brain recordings has identified that seizure risk is linked to daily and multiday cycles in brain activity. Here, we provide the first characterization of the relationships between the cyclical modulation of a diverse ...

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