A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

Abstract

Objective

This study was undertaken to evaluate efficacy and long-term safety of triheptanoin in patients >1 year old, not on a ketogenic diet, with drug-resistant seizures associated with glucose transporter 1 deficiency syndrome (Glut1DS).

Methods

UX007G-CL201 was a randomized, double-blind, placebo-controlled trial. Following a 6-week baseline period, eligible patients were randomized 3:1 to triheptanoin or placebo. Dosing was titrated to 35% of total daily calories over 2 weeks. After an 8-week placebo-controlled period, all patients received open-label triheptanoin through Week 52.

Results

The study included 36 patients ...

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Key Predictors of the Need for a Family‐Focused Pediatric Epilepsy Adherence Intervention

Abstract

Objective

Nonadherence to anti-seizure drugs (ASMs) is a significant problem in pediatric epilepsy and is linked to increased morbidity, mortality, clinically unnecessary medication changes, and increased healthcare costs. Family interventions can improve adherence. However, it is challenging to know which families will struggle with nonadherence and require intervention. This study aims to identify specific parent, family, child, and medical factors that predict which families most need family-based adherence interventions.

Methods

Families enrolled in a randomized clinical trial of a family-based adherence intervention completed ...

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Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with Genetic Epilepsy and Febrile Seizures Plus (GEFS+)

Summary

Objective

Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant influence the clinical manifestation. However, identifying such factors has proven challenging in humans.

Methods

We perform whole exome sequencing in a large family in which an SCN1A variant (p.K1372E) is segregating that is associated with a broad spectrum of phenotypes ranging from lack of epilepsy, to febrile seizures and absence seizures, to ...

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Clinical and imaging features of nonmotor onset seizure in poststroke epilepsy

Abstract

Objective

Motivated by the challenges raised by diagnosing poststroke epilepsy (PSE), especially in nonmotor onset seizure (non-MOS), we aimed to investigate features of non-MOS, including seizure sequences, patient characteristics, and electrophysiological and imaging findings in PSE.

Methods

This observational cohort study enrolled patients with PSE whose seizure onset was witnessed. According to the International League Against Epilepsy 2017 seizure classification, we classified seizure onset symptoms into the non-MOS and MOS groups. We compared different clinical characteristics between the two groups.

Results

Between 2011 and 2018, ...

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Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy

Abstract

Objective

Cerebral cavernous malformations (CCMs) present variably and epileptic seizures are the most common symptom. The factors contributing to cavernoma-related epilepsy (CRE) and drug resistance remain inconclusive. The outcomes of CRE after different treatment modalities have not yet been fully addressed. This study aimed to characterize the clinical features of patients with CRE and the long-term seizure outcomes of medical and surgical treatment strategies.

Methods

This was a retrospective cohort of 135 patients with CCM who were diagnosed in 2007~2011 and followed up ...

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Provoked seizures and status epilepticus in a pediatric population with COVID‐19 disease

Abstract

We are reporting 16 pediatric patients (ages 0–18-years-old) who presented to our urban hospital emergency room with seizures and coronavirus disease 2019 (COVID-19) during the surge of the Omicron variant. There was an increased number of pediatric patients with seizures and COVID-19 during this period as compared to prior COVID-19 surges. The 16 patients ranged in age from 3 months to 12 years of age. Five of the 16 patients (31%) had a prior history of epilepsy. Eight patients (50%) presented in ...

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Correlation between FDG‐PET brain hypometabolism and PTSD symptoms in temporal lobe epilepsy

Abstract

The relationship between post-traumatic stress disorder (PTSD) and focal epilepsy is poorly understood. It has been hypothesized that there is a complex and reciprocal potential reinforcement of the symptoms of each condition. In this study, we investigated whether there were PTSD-specific brain changes in temporal lobe epilepsy (TLE). Brain 18F-FDG-PET metabolism was compared between controls and two groups of TLE patients: one group of 15 patients fulfilling the criteria of a potential diagnosis of PTSD (TLE-PTSD+), another group of 24 ...

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Worth the paper they’re printed on? Findings from an independent evaluation of how understandable patient information leaflets for antiseizure medications are

Abstract

OBJECTIVE

The Patient Information Leaflet (PIL) is an authoritative document that all people with epilepsy (PWE) in the European Union receive when prescribed anti-seizure medication (ASM). We undertook the first independent, comprehensive assessment to determine how understandable they are. Regulators state that when patients are asked comprehension questions about them, ≥80% should answer correctly. Also recommended PILs have a maximum reading requirement of US Grade 8.

Methods:


Study 1:
Obtained 140 current ASM PILs written in English. ‘Readability’ ...

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Patient‐specific structural connectivity informs outcomes of responsive neurostimulation for temporal lobe epilepsy

Abstract

Objective

Responsive neurostimulation is an effective therapy for patients with refractory mesial temporal lobe epilepsy. However, clinical outcomes are variable, few patients become seizure-free, and the optimal stimulation location is currently undefined. The aim of this study was to quantify responsive neurostimulation in the mesial temporal lobe, identify stimulation-dependent networks associated with seizure reduction, and determine if stimulation location or stimulation-dependent networks inform outcomes.

Methods

We modeled patient-specific volumes of tissue activated and created probabilistic stimulation maps of local regions of stimulation across ...

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Hippocampal position and orientation as prognostic biomarkers for posttraumatic epileptogenesis: An experimental study in a rat lateral fluid percussion model

Abstract

Objective

This study was undertaken to identify prognostic biomarkers for posttraumatic epileptogenesis derived from parameters related to the hippocampal position and orientation.

Methods

Data were derived from two preclinical magnetic resonance imaging (MRI) follow-up studies: EPITARGET (156 rats) and Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx; University of Eastern Finland cohort, 43 rats). Epileptogenesis was induced with lateral fluid percussion-induced traumatic brain injury (TBI) in adult male Sprague Dawley rats. In the EPITARGET cohort, T2∗-weighted MRI was performed at 2, 7, and 21 days ...

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