Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function

Abstract

Objective

Mutations in the gene solute carrier family member 1A2 (SLC1A2) encoding the excitatory amino acid transporter 2 (EAAT2) are associated with severe forms of epileptic encephalopathy. EAAT2 is expressed in glial cells and presynaptic nerve terminals and represents the main l-glutamate uptake carrier in the mammalian brain. It does not only function as a secondary active glutamate transporter, but also as an anion channel. How naturally occurring mutations affect these two transport functions of EAAT2 and how such alterations cause ...

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Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial

Abstract

Objective

To evaluate the long-term safety and efficacy of add-on cannabidiol (CBD) in patients with seizures associated with tuberous sclerosis complex (TSC) in the open-label extension (OLE) of the randomized, placebo-controlled phase 3 trial GWPCARE6 (NCT02544763). Results of an interim (February 2019 data cut) analysis are reported.

Methods

Patients who completed the randomized trial enrolled to receive CBD (Epidiolex® in the United States; Epidyolex® in the EU; 100 mg/mL oral solution). The initial target dose was 25 mg/kg/day, which, based on response and tolerability, could ...

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Norwegian population‐based study of long‐term effects, safety, and predictors of response of vagus nerve stimulation treatment in drug‐resistant epilepsy: The NORPulse study

Abstract

Objective

This study was undertaken to evaluate the efficacy of vagus nerve stimulation (VNS) over time, and to determine which patient groups derive the most benefit.

Methods

Long-term outcomes are reported in 436 epilepsy patients from a VNS quality registry (52.8% adults, 47.2% children), with a median follow-up of 75 months. Patients were stratified according to evolution of response into constant responders, fluctuating responders, and nonresponders. The effect was evaluated at 6, 12, 24, 36, and 60 months. Multivariate regression analysis was used to identify ...

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Association between antiseizure medications and quality of life in epilepsy: A mediation analysis

Abstract

Objective

The relationship between antiseizure medications (ASMs), which improve health outcomes by controlling seizures, and health-related quality of life (HRQOL) is poorly understood and may involve intermediate variables. We evaluated the potential mediators of the association between ASMs and HRQOL.

Methods

Data are from an outpatient registry of adult patients with epilepsy seen at the Foothills Medical Center, Calgary, Alberta, Canada. Quality of life was measured using the 10-item Quality of Life in Epilepsy, and depression was measured using the Neurological Disorders Depression ...

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Relative importance of clinical outcomes and safety risks of antiseizure medication monotherapy for patients and physicians: Discrete choice experiment eliciting preferences in real‐world study “VOTE”

Abstract

Objective

This study was undertaken to elicit patients’ preferences for attributes characterizing antiseizure medication (ASM) monotherapy options before treatment consultation, and to explore the trade-offs patients consider between treatment efficacy and risks of side effects. Further objectives were to explore how treatment consultation may affect patient preferences, to elicit physicians’ preferences in selecting treatment, and to compare patient and physician preferences for treatment.

Methods

This prospective, observational study (EP0076; VOTE) included adults with focal seizures requiring a change in their ASM monotherapy. Patients ...

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Early alterations of the neuronal network processing whisker‐related sensory signal during absence epileptogenesis

Abstract

Objective

Epileptogenesis is the particular process during which the epileptic network builds up progressively before the onset of the first seizures. Whether physiological functions are impacted by this development of epilepsy remains unclear. To explore this question, we used Genetic Absence Epilepsy Rats From Strasbourg (GAERS), in which spike-and-wave discharges are initiated in the whisker primary somatosensory cortex (wS1) and first occur during cortical maturation. We studied the development of both the epileptic and the physiological wS1 circuits during cortical maturation ...

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Correcting for physiological ripples improves epileptic focus identification and outcome prediction

Abstract

Objective

The integration of high-frequency oscillations (HFOs; ripples [80–250 Hz], fast ripples [250–500 Hz]) in epilepsy evaluation is hampered by physiological HFOs, which cannot be reliably differentiated from pathological HFOs. We evaluated whether defining abnormal HFO rates by statistical comparison to region-specific physiological HFO rates observed in the healthy brain improves identification of the epileptic focus and surgical outcome prediction.

Methods

We detected HFOs in 151 consecutive patients who underwent stereo-electroencephalography and subsequent resective epilepsy surgery at two tertiary epilepsy centers. We compared how HFOs ...

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Genetic testing for the epilepsies: A systematic review

Abstract

Objective

Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. We performed a systematic evidence review (SER) and conducted meta-analyses of the diagnostic yield of genetic tests commonly utilized for patients with epilepsy. We also assessed nonyield outcomes (NYOs) such as changes in treatment and/or management, prognostic information, recurrence risk determination, and genetic counseling.

Methods

We performed an SER, in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses), ...

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Accelerated long‐term forgetting in adult patients with genetic generalized epilepsy

Abstract

Objective

Accelerated long-term forgetting (ALF) has been demonstrated among children but not adults with genetic generalized epilepsy (GGE). We investigated (1) how forgetting patterns of verbal and visuospatial material differ between patients with GGE and healthy controls (HCs) and (2) whether ALF is associated with ictal or interictal epileptic activity.

Methods

Forty-two patients with GGE (39, 92.9% experiencing seizures) were compared to 57 HCs in word, logical story, and Rey–Osterrieth complex figure recall tasks by testing after intervals of 30 min and 4 weeks. ...

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Abnormal functional connectivity profiles predict drug responsiveness in patients with temporal lobe epilepsy

Abstract

Objective

This work was undertaken to study the functional connectivity differences between non-seizure-free and seizure-free patients with temporal lobe epilepsy (TLE) and to identify imaging predictors for drug responsiveness in TLE.

Methods

In this prospective study, 52 patients with TLE who presented undetermined antiseizure medication responsiveness and 55 demographically matched healthy controls were sequentially recruited from Xiangya Hospital. Functional magnetic resonance imaging data were acquired during a Chinese version of the verbal fluency task. The patients were followed up until the outcome could be classified. ...

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