Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

The solute carrier family 6 member 1 (SLC6A1) gene encodes GAT-1, a γ-aminobutyric acid transporter expressed on astrocytes and inhibitory neurons. Mutations in SLC6A1 are associated with epilepsy and developmental disorders, including motor and social impairments, but variant-specific animal models are needed to elucidate mechanisms. Here, we report electrocorticographic (ECoG) recordings and clinical data from a patient with a variant in SLC6A1 that encodes GAT-1 with a serine-to-leucine substitution at amino acid 295 (S295L), who was diagnosed with childhood absence ...

Abstract

Objective

This study was undertaken to describe extracerebral biosignal characteristics of overall and various seizure types as compared with baseline physical activities using multimodal devices (Empatica E4); develop predictive models for overall and each seizure type; and assess diagnostic performance of each model.

Methods

We prospectively recruited patients with focal epilepsy who were admitted to the epilepsy monitoring unit for presurgical evaluation during January to December 2020. All study participants were simultaneously applied gold standard long-term video-electroencephalographic (EEG) monitoring and an index test, ...

Abstract

Objective

We designed a quality improvement (QI) project to improve rates of documented folic acid supplementation counseling for adolescent females with epilepsy, consistent with a quality measure from the American Academy of Neurology and American Epilepsy Society. Our SMART aim was to increase the percentage of visits at which folic acid counseling was addressed from our baseline rate of 23% to 50% by July 1, 2020.

Methods

This initiative was conducted in female patients ≥12 years old with epilepsy who were prescribed daily antiseizure medication ...

Abstract

Objective

Visual assessment of magnetic resonance imaging (MRI) from the Human Epilepsy Project 1 (HEP1) found 18% of participants had atrophic brain changes relative to age without known etiology. Here, we identify the underlying factors related to brain volume differences in people with focal epilepsy enrolled in HEP1.

Methods

Enrollment data for participants with complete records and brain MRIs were analyzed, including 391 participants aged 12–60 years. HEP1 excluded developmental or cognitive delay with intelligence quotient <70, and participants reported any formal learning disability ...

Abstract

Objective

More than one-third of mesial temporal lobe epilepsy (MTLE) patients are resistant to current anti-seizure medications (ASMs), while half experience mild-to-moderate adverse effects of ASMs. There is therefore a strong need to develop and test novel ASMs. The objective of this work is to evaluate the pharmacokinetics and neurological toxicity of E2730, a novel uncompetitive inhibitor of GABA transporter-1 (GAT-1), and to test its seizure suppression effects in a chronic rat model of MTLE.

Methods

We first examined plasma levels and adverse ...

Abstract

Objective

To report a retrospective, single-center experience with a novel deep brain stimulation (DBS) device capable of chronic local field potential (LFP) recording in drug-resistant epilepsy (DRE) and explore potential electrophysiological biomarkers that may aid DBS programming and outcome tracking.

Methods

Five patients with DRE underwent thalamic DBS, targeting either the bilateral anterior (ANT; n=3) or centromedian (CM; n=2) nuclei. Post-operative electrode lead localizations were visualized in Lead-DBS software. Local field potentials recorded over 12-18 months were tracked and changes in power were ...