Epilepsia. Official Journal of the International League Against Epilepsy

Summary

Objective

Stiripentol (STP; Diacomit®) is an antiepileptic drug indicated for Dravet syndrome that has been identified as a γ-aminobutyric acid (GABAergic) positive allosteric modulator. Dravet syndrome is characterized by multiple seizure types: generalized tonic–clonic, focal, myoclonic, and absence seizures. In addition to its antiepileptic effects on tonic–clonic seizures, STP has also been reported to reduce the frequency of atypical absence seizures in patients. Our study focused on STP potential effects on absence seizures, to better characterize its full spectrum of mechanisms ...

Abstract

Objective

To evaluate the diagnostic performance of artificial intelligence (AI)–based algorithms for identifying the presence of interictal epileptiform discharges (IEDs) in routine (20-min) electroencephalography (EEG) recordings.

Methods

We evaluated two approaches: a fully automated one and a hybrid approach, where three human raters applied an operational IED definition to assess the automated detections grouped into clusters by the algorithms. We used three previously developed AI algorithms: Encevis, SpikeNet, and Persyst. The diagnostic gold standard (epilepsy or not) was derived from video-EEG recordings of ...

Abstract

Objective

Transient Epileptic Amnesia (TEA) is a form of adult-onset epilepsy where presenting features are well described, but little is known regarding prognosis. This study aimed to elucidate the long-term prognosis of TEA regarding seizure control, memory, medical comorbidities and life expectancy.

Methods

Up-to-date clinical information was collected for 47 people diagnosed with TEA who had joined the TIME study 10 years earlier. At entry to the study, information about comorbid conditions was systematically collected. Details regarding subsequent diagnoses, seizure activity, changes to ...

Abstract

Objective

Although previous imaging studies have reported cerebellar gray matter loss in patients with familial cortical myoclonic tremor with epilepsy (FCMTE), the corresponding white matter alterations remain unknown. We investigated white matter structural changes in FCMTE1 and compared them with clinical and electrophysiological features.

Methods

We enrolled 36 patients carrying heterozygous pathogenic intronic pentanucleotide insertions in the SAMD12 gene and 52 age- and sex-matched healthy controls. Diffusion tensor imaging-derived metrics, including fractional anisotropy, mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) ...

Abstract

Objective

Antiseizure drug (ASD) therapy can significantly impact quality of life for pediatric patients whose epilepsy remains refractory to medications and who experience neuropsychological side effects manifested by impaired cognitive and social development. Contemporary patterns of ASD reduction after pediatric epilepsy surgery across practice settings in the United States are sparsely reported outside of small series. We assessed timing and durability of ASD reduction after pediatric epilepsy surgery and associated effects on health care utilization.

Methods

We performed a retrospective analysis of 376 ...

Abstract

Objective

Pathogenic variants in DCX on the X chromosome lead to lissencephaly and subcortical band heterotopia (SBH), brain malformations caused by neuronal migration defects. Its product doublecortin (DCX) binds to microtubules to modulate microtubule polymerization. How pathogenic DCX variants affect these activities remains not fully investigated.

Methods

DCX variants were identified using whole exome and Sanger sequencing from six families with lissencephaly/SBH. We examined how these variants affect DCX functions using microtubule binding, regrowth, and colocalization assays.

Results

We found novel DCX variants p.Val177AlafsTer31 and ...

Abstract

The term neurovascular unit (NVU) describes the structural and functional liaison between specialized brain endothelium, glial and mural cells, and neurons. Within the NVU, the blood-brain barrier (BBB) is the microvascular structure regulating neuronal physiology, immune cross-talk, and its properties adapt to brain aging. Here, we analyze a research framework where NVU dysfunction, caused by acute insults or disease progression in the aging brain, represents a converging mechanism underlying late-onset seizures or epilepsy and neurological or neurodegenerative sequelae. Alongside, seizure ...

Abstract

Objective

To evaluate the pharmacokinetics, safety, and tolerability of brivaracetam (BRV) as 15-min intravenous (IV) infusion and bolus (≤2-min injection).

Methods

EP0065 (ClinicalTrials.gov: NCT03405714) was a Phase 2, multicenter, open-label trial in patients ≥1 month to <16 years of age with epilepsy. Patients received up to 5 mg/kg/day BRV (not exceeding 200 mg/day). Enrollment was sequential by descending age, depending on safety review. Outcomes included BRV plasma concentrations before and after IV administration, treatment-emergent adverse events (TEAEs), and discontinuations due to TEAEs.

Results

Fifty patients were enrolled, received BRV, ...

Abstract

Objective

Neuroimaging and genetic testing have been proposed for diagnostic evaluation of infantile spasms (IS), establishing etiology in ~60% of multicenter IS cohorts. A retrospective analysis of the yield of diagnostic etiology following an institutionally established guideline for investigation/treatment of IS was conducted, and the association between etiological subgroups and sustained response to standard treatment was evaluated.

Methods:

Etiology of IS, neuroimaging, and genetic results were extracted from clinical records. Etiology was categorized as acquired or non-acquired, the latter including syndromic patients, non-syndromic ...