Epilepsia. Official Journal of the International League Against Epilepsy

Summary

Objective

To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype‐protein structure‐phenotype relationships.

Methods

We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three‐dimensional structural protein model.

Results

The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with ...

Summary

Objective

The high incidence of epileptic seizures in neonates and their frequent refractoriness to pharmacologic therapies require identification of new therapeutical options. Therefore, we investigated whether the modulatory effect of taurine on γ‐aminobutyric acid (GABA)_A receptors can enhance the anticonvulsive potential of the GABA_A receptor agonist muscimol and of the barbiturate pentobarbital.

Methods

We performed field potential recordings in in toto hippocampus preparations of immature (postnatal days 4‐7) C57Bl/6 mouse pups. Spontaneous epileptiform activity was induced by the continuous presence of the potassium ...

Summary

Objective

Attention‐deficit/hyperactivity disorder (ADHD) affects 10%‐30% of individuals with epilepsy, yet concerns remain regarding the safety of ADHD medication in this group. The objective of this study was to examine the risk of acute seizures associated with ADHD medication in individuals with epilepsy.

Methods

A total of 21 557 individuals with a seizure history born between 1987 and 2003 were identified from Swedish population registers. Within this study population, we also identified 6773 youth (<19 years of age) who meet criteria for epilepsy, and 1605 ...

Summary

Objective

Medication nonadherence directly contributes to poor seizure control. A lack of emphasis on correcting poor adherence and failures in patient adherence can result in unwarranted alterations to a patient’s drug regimen. We have modeled nonadherent patients in an animal model of epilepsy to study how alterations to pharmacotherapy, made without consideration of a patient’s adherence, result in changes to seizure control.

Methods

Newly diagnosed rats with epilepsy were treated with carbamazepine (CBZ) during a 4‐week baseline period to establish their baseline seizure ...

Summary

Dravet syndrome (DS) is a severe genetic epileptic encephalopathy with onset during the first year of life. Zebrafish models recapitulating human diseases are often used as drug discovery platforms, but also for drug repurposing testing. It was recently shown that pharmacological modulation of three serotonergic (5‐HT) receptors (5‐HT_1D, 5‐HT_2C, 5‐HT_2A) exerts antiseizure effects in a zebrafish scn1Lab
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mutant model of DS. Using the zebrafish DS model, our aim was to examine the possibility of repurposing efavirenz (EFA), lisuride ...

Summary

Objective

To describe the long‐term prognosis of childhood epilepsy, with special emphasis on seizure remission, relapse, medication, associated neurologic impairment, mortality rate, and cause of death.

Methods

A prospective longitudinal study on a population‐based total cohort of 195 children with epileptic seizures in 1962‐1964. Data were collected from medical records and a questionnaire.

Results

Follow‐up data from 94% of the initial cohort showed the best long‐term prognosis for seizure freedom for children with no intellectual or neurologic impairment. These children had later seizure onset, shorter ...

Summary

Objective

Magnetic resonance (MR) thermography–guided laser interstitial thermal therapy, or stereotactic laser ablation (SLA), is a minimally invasive alternative to open surgery for focal epilepsy caused by cerebral cavernous malformations (CCMs). We examined the safety and effectiveness of SLA of epileptogenic CCMs.

Methods

We retrospectively analyzed 19 consecutive patients who presented with focal seizures associated with a CCM. Each patient underwent SLA of the CCM and adjacent cortex followed by standard clinical and imaging follow‐up.

Results

All but one patient had chronic medically refractory epilepsy ...

Summary

Objective

Despite the obvious advantages of resective surgery in patients with drug‐resistant focal epilepsy, namely high probability of seizure freedom, decreased mortality, and increased quality of life, referral rates from physicians and approval rates by patients for presurgical assessment remain constantly low.

Methods

In the outpatient clinics of a tertiary epilepsy center, checklists were implemented asking treating epileptologists whether they recommended presurgical evaluation with noninvasive video‐electroencephalographic monitoring to adult patients with drug‐resistant focal epilepsy and asking respective patients whether they followed this recommendation.

Results

Of ...

Summary

Objective

To explore the real‐time effects of interictal epileptiform discharges (IEDs) on hippocampus and amygdala functional connectivity (FC) in unilateral temporal lobe epilepsy (TLE).

Methods

Patients with unilateral TLE were recruited and underwent simultaneous electroencephalography–functional magnetic resonance imaging (EEG‐fMRI) scanning. Simultaneous EEG was used to define the prespike (10 s before spike) and postspike (10 s after spike) periods. Dynamic FC analysis was applied using the left/right hippocampus and amygdala separately as a seed region to map the network alterations after IED occurrence.

Results

A ...

Summary

Objective

Generalized convulsive seizures (GCS) are associated with high demands on the cardiovascular system, thereby facilitating cardiac complications. To investigate occurrence, influencing factors, and extent of cardiac stress or injury, the alterations and time course of the latest generation of cardiac blood markers were investigated after documented GCS.

Methods

Adult patients with refractory epilepsy who underwent video–electroencephalography (EEG) monitoring along with simultaneous one‐lead electrocardiography (ECG) recordings were included. Cardiac biomarkers (cardiac troponin I [cTNI]; high‐sensitive troponin T [hsTNT]; N‐terminal prohormone of brain natriuretic ...