Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders

Abstract

Objective

We aimed to develop consensus for diagnosis/management of SCN8A-related disorders. Utilizing a modified Delphi process, a global cohort of experienced clinicians and caregivers provided input on diagnosis, phenotypes, treatment, and management of SCN8A-related disorders.

Methods

A Core Panel (13 clinicians, one researcher, six caregivers), divided into three subgroups (diagnosis/phenotypes, treatment, comorbidities/prognosis), performed a literature review and developed questions for the modified Delphi process. Twenty-eight expert clinicians, one researcher, and 13 caregivers from 16 countries participated in the subsequent three survey rounds. We ...

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Population‐based study of rare epilepsy incidence in a US urban population

Abstract

Objective

This study was undertaken to estimate incidence of rare epilepsies and compare with literature.

Methods

We used electronic health record text search to identify children with 28 rare epilepsies in New York City (2010–2014). We estimated cumulative incidence and compared with literature.

Results

Eight of 28 rare epilepsies had five or more prior estimates, and our measurements were within the published range for all. The most common were infantile epileptic spasms syndrome (1 in 2920 live births), Lennox–Gastaut syndrome (1 in 9690), and seizures ...

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Focal cooling: An alternative treatment for drug‐resistant epilepsy in a mesial temporal lobe epilepsy primate model—A preliminary study

Abstract

Objective

Focal cooling is emerging as a relevant therapy for drug-resistant epilepsy (DRE). However, we lack data on its effectiveness in controlling seizures that originate in deep-seated areas like the hippocampus. We present a thermoelectric solution for focal brain cooling that specifically targets these brain structures.

Methods

A prototype implantable device was developed, including temperature sensors and a cannula for penicillin injection to create an epileptogenic zone (EZ) near the cooling tip in a non-human primate model of epilepsy. The mesial temporal lobe ...

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The changing landscape of electrical stimulation language mapping with subdural electrodes and stereoelectroencephalography for pediatric epilepsy: A literature review and commentary

Abstract

Electrical stimulation mapping (ESM) is used to locate the brain areas supporting language directly within the human cortex to minimize the risk of functional decline following epilepsy surgery. ESM is completed by utilizing subdural grid or depth electrodes (stereo-electroencephalography [sEEG]) in combination with behavioral evaluation of language. Despite technological advances, there is no standardized method of assessing language during pediatric ESM. To identify current clinical practices for pediatric ESM of language, we surveyed neuropsychologists in the Pediatric Epilepsy Research Consortium. ...

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Estimating the likelihood of epilepsy from clinically noncontributory electroencephalograms using computational analysis: A retrospective, multisite case–control study

Abstract

Objective

This study was undertaken to validate a set of candidate biomarkers of seizure susceptibility in a retrospective, multisite case–control study, and to determine the robustness of these biomarkers derived from routinely collected electroencephalography (EEG) within a large cohort (both epilepsy and common alternative conditions such as nonepileptic attack disorder).

Methods

The database consisted of 814 EEG recordings from 648 subjects, collected from eight National Health Service sites across the UK. Clinically noncontributory EEG recordings were identified by an experienced clinical scientist (N = 281; ...

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Detection of focal to bilateral tonic–clonic seizures using a connected shirt

Abstract

Objective

This study was undertaken to develop and evaluate a machine learning-based algorithm for the detection of focal to bilateral tonic–clonic seizures (FBTCS) using a novel multimodal connected shirt.

Methods

We prospectively recruited patients with epilepsy admitted to our epilepsy monitoring unit and asked them to wear the connected shirt while under simultaneous video-electroencephalographic monitoring. Electrocardiographic (ECG) and accelerometric (ACC) signals recorded with the connected shirt were used for the development of the seizure detection algorithm. First, we used a sliding window to ...

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Sex differences in cholinergic signaling affect functional outcomes for theta–gamma coordination in hippocampal subcircuits following experimental febrile status epilepticus

Abstract

Objective

Sex determines cognitive outcome in animal models of early life seizure, where males exhibit impaired hippocampal-dependent learning and memory compared with females. The physiological underpinnings of this sex effect are unclear. Cholinergic signaling is essential for the generation of hippocampal oscillations, and supplementation of cholinergic precursors prior to status epilepticus in immature male rats prevents subsequent memory deficits. We hypothesized that there are sex differences in acetylcholine circuits and their response to experimental febrile status epilepticus (eFSE).

Methods

eFSE was induced in ...

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The use of parent‐completed questionnaires to investigate developmental outcomes in large populations of children exposed to antiseizure medications in pregnancy

Abstract

Objective

This study was undertaken to assess the utility of the Ages and Stages Questionnaire–3rd Edition (ASQ-3) and the Vineland Adaptive Behavior Scales–2nd Edition (VABS-II) as neurodevelopmental screening tools for infants exposed to antiseizure medications in utero, and to examine their suitability for use in large-population signal generation initiatives.

Methods

Participants were women with epilepsy who were recruited from 21 hospitals in England and Northern Ireland during pregnancy between 2014 and 2016. Offspring were assessed at 24 months old using the Bayley Scales of ...

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How accurate do self‐reported seizures need to be for effective medication management in epilepsy?

Abstract

Studies suggest that self-reported seizure diaries suffer from 50% under-reporting on average. It is unknown to what extent this impacts medication management. This study used simulation to predict the seizure outcomes of a large heterogeneous clinic population treated with a standardized algorithm based on self-reported seizures. Using CHOCOLATES, a state-of-the-art realistic seizure diary simulator, 100 000 patients were simulated over 10 years. A standard algorithm for medication management was employed at 3 month intervals for all patients. The impact on true seizure rates, ...

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Case for supporting astrocyte energetics in glucose transporter 1 deficiency syndrome

Abstract

In glucose transporter 1 deficiency syndrome (Glut1DS), glucose transport into brain is reduced due to impaired Glut1 function in endothelial cells at the blood–brain barrier. This can lead to shortages of glucose in brain and is thought to contribute to seizures. Ketogenic diets are the first-line treatment and, among many beneficial effects, provide auxiliary fuel in the form of ketone bodies that are largely metabolized by neurons. However, Glut1 is also the main glucose transporter in astrocytes. Here, we review ...

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