Dravet syndrome and its mimics: Beyond SCN1A

Summary

Objective

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about ...

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Impaired bone and muscle development in young people treated with antiepileptic drugs

Summary

Objective

Antiepileptic drugs (AEDs) are associated with reduced bone density, balance impairment, and increased fracture risk in adults. However, pediatric data are limited. Therefore, we aimed to examine bone, muscle, and balance outcomes in young patients taking AEDs.

Methods

We undertook a case–control study utilizing an AED exposure–discordant matched-pair approach. Subjects were aged 5–18 years with at least 12 months of AED exposure. Pairs were twins, nontwin siblings and first cousins, sex- and age-matched (to within 2 years), allowing ...

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Vascular, inflammatory, and metabolic factors associated with cognition in aging persons with chronic epilepsy

Summary

We examined cognition in aging persons with chronic epilepsy; characterized targeted vascular, inflammatory, and metabolic risk factors associated with abnormal cognitive aging in the general population; and examined associations between cognition and vascular, inflammatory, and metabolic health. Participants included 40 persons with chronic localization-related epilepsy and 152 controls, aged 54.6 and 55.3, respectively. Participants underwent neuropsychological assessment, clinical examination, and fasting blood evaluation for quantification of vascular status (systolic and diastolic blood pressure, obesity/body mass index [BMI], ...

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Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

Summary

Objective

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a common epilepsy syndrome that is often poorly controlled by antiepileptic drug (AED) treatment. Comparative AED effectiveness studies in this condition are lacking. We report retention, efficacy, and tolerability in a cohort of patients with MTLE-HS.

Methods

Clinical data were collected from a European database of patients with epilepsy. We estimated retention, 12-month seizure freedom, and adverse drug reaction (ADR) rates for the 10 most commonly used AEDs in ...

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Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

Summary

Objective

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a common epilepsy syndrome that is often poorly controlled by antiepileptic drug (AED) treatment. Comparative AED effectiveness studies in this condition are lacking. We report retention, efficacy, and tolerability in a cohort of patients with MTLE-HS.

Methods

Clinical data were collected from a European database of patients with epilepsy. We estimated retention, 12-month seizure freedom, and adverse drug reaction (ADR) rates for the 10 most commonly used AEDs in ...

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Gender equality in academic research on epilepsy—a study on scientific authorships

Summary

Objective

The study aims to elucidate the state of gender equality in epilepsy research, analyzing the representation of female authorships from 2008 to 2016.

Methods

Gendermetrics aided in analyzing 106,282 authorships from 22,180 epilepsy-related original research articles. The key methodology was the combined analysis of the relative frequency and the odds ratio of female authorships. The Prestige Index measures the distribution of prestigious authorships between the two genders.

Results

The following were held by women: 39.6% of all authorships and ...

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Anti-ictogenic and antiepileptogenic properties of perampanel in mature and immature rats

Summary

Objective

Perampanel (PER) is a selective noncompetitive antagonist at α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors, the first of its class approved for the adjunctive treatment of partial onset seizures and generalized seizures. This study explored anti-ictogenic and antiepileptogenic effects of PER in rats at different stages of development.

Methods

Using a rapid kindling model in postnatal day 14 (P14), P21, P28, and P60 rats, we studied two doses of PER: 1 and 2 mg/kg injected intraperitoneally 30 min before afterdischarge assessment. We also assessed ...

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Anti-ictogenic and antiepileptogenic properties of perampanel in mature and immature rats

Summary

Objective

Perampanel (PER) is a selective noncompetitive antagonist at α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors, the first of its class approved for the adjunctive treatment of partial onset seizures and generalized seizures. This study explored anti-ictogenic and antiepileptogenic effects of PER in rats at different stages of development.

Methods

Using a rapid kindling model in postnatal day 14 (P14), P21, P28, and P60 rats, we studied two doses of PER: 1 and 2 mg/kg injected intraperitoneally 30 min before afterdischarge assessment. We also assessed ...

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On the relationship between calcified neurocysticercosis and epilepsy in an endemic village: A large-scale, computed tomography–based population study in rural Ecuador

Summary

Objective

Using a large-scale population-based study, we aimed to assess prevalence and patterns of presentation of neurocysticercosis (NCC) and its relationship with epilepsy in community-dwellers aged ≥20 years living in Atahualpa (rural Ecuador).

Methods

In a three-phase epidemiological study, individuals with suspected seizures were identified during a door-to-door survey and an interview (phase I). Then, neurologists evaluated suspected cases and randomly selected negative persons to estimate epilepsy prevalence (phase II). In phase III, all participants were offered noncontrast computed tomography ...

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Brivaracetam does not modulate ionotropic channels activated by glutamate, γ-aminobutyric acid, and glycine in hippocampal neurons

Summary

Brivaracetam (BRV) is a selective, high-affinity ligand for synaptic vesicle protein 2A (SV2A), recently approved as adjunctive treatment for drug-refractory partial-onset seizures in adults. BRV binds SV2A with higher affinity than levetiracetam (LEV), and was shown to have a differential interaction with SV2A. Because LEV was reported to interact with multiple excitatory and inhibitory ligand-gated ion channels and that may impact its pharmacological profile, we were interested in determining whether BRV directly modulates inhibitory and excitatory ionotropic ...

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