Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

To find the covert patterns of abnormality in patients with unilateral temporal lobe epilepsy (TLE) and visually normal brain magnetic resonance images (MRI‐negative), comparing them to those with visible abnormalities (MRI‐positive).

Methods

We used multimodal brain MRI from patients with unilateral TLE and employed contemporary machine learning methods to predict the known laterality of seizure onset in 104 subjects (82 MRI‐positive, 22 MRI‐negative). A visualization approach entitled “Importance Maps” was developed to highlight image features predictive of seizure laterality in both the ...

Abstract

Objective

To determine if routine electroencephalography (EEG) in seizure‐naive infants with tuberous sclerosis complex (TSC) can predict epilepsy and subsequent neurocognitive outcomes.

Methods

Forty infants 7 months of age or younger and meeting the genetic or clinical diagnostic criteria for tuberous sclerosis were enrolled. Exclusion criteria included prior history of seizures or treatment with antiseizure medications. At each visit, seizure history and 1‐hour awake and asleep video‐EEG, standardized across all sites, were obtained until 2 years of age. Developmental assessments (Mullen and Vineland‐II) were completed ...

Abstract

Objective

To examine longitudinal seizure and functional outcomes after hemispherectomy in adults and adolescents.

Methods

We reviewed 47 consecutive patients older than 16 years who underwent hemispherectomy between 1996 and 2016 at our center. Clinical, electroencephalographic (EEG), imaging, neuropsychological, surgical, and functional status data were analyzed.

Results

Thirty‐six patients were 18 years or older at surgery; 11 were aged between 16 and 18 years. Brain injury leading to hemispheric epilepsy occurred before 10 years of age in 41 (87%) patients. At a mean follow‐up of 5.3 postoperative years ...

Abstract

Objective

To evaluate the presence of tau deposition and pathologic features of chronic traumatic encephalopathy (CTE) in young adult patients treated with focal cortical resections for drug‐resistant epilepsy.

Methods

Sixty consecutive patients who had undergone surgical treatment for drug‐resistant focal epilepsy between 18 and 45 years of age were identified (2010‐2017). Medical records were reviewed to determine clinical factors, including history of head trauma, age at seizure onset, age at surgical resection, seizure type(s) and frequency, imaging findings, and surgical outcome. All formalin‐fixed, paraffin‐embedded ...

Abstract

Objective

Generalized epileptiform discharges (GEDs) can occur during seizures or without obvious clinical accompaniment. Motor vehicle driving risk during apparently subclinical GEDs is uncertain. Our goals were to develop a feasible, realistic test to evaluate driving safety during GEDs, and to begin evaluating electroencephalographic (EEG) features in relation to driving safety.

Methods

Subjects were aged ≥15 years with generalized epilepsy, GEDs on EEG, and no clinical seizures. Using a high‐fidelity driving simulator (miniSim) with simultaneous EEG, a red oval visual stimulus was presented every ...

Abstract

Objective

To determine the incidence of clinically relevant arrhythmias in refractory focal epilepsy and to assess the potential of postictal arrhythmias as risk markers for sudden unexpected death in epilepsy (SUDEP).

Methods

We recruited people with refractory focal epilepsy without signs of ictal asystole and who had at least one focal seizure per month and implanted a loop recorder with 2‐year follow‐up. The devices automatically record arrhythmias. Subjects and caregivers were instructed to make additional peri‐ictal recordings. Clinically relevant arrhythmias were defined as ...

Abstract

Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three ...

Abstract

Objective

To assess the long‐term efficacy and tolerability of stiripentol (STP) as an adjunctive treatment in different forms of refractory epilepsies.

Methods

The medical records of all individuals consecutively treated with STP as add‐on therapy for refractory epilepsies, irrespective of their being focal, generalized, or both, and followed at Meyer Children’s Hospital between January 2007 and May 2018, were reviewed. The drug scheme administration consisted of a starting dose of STP of 10‐15 mg/kg/d with increments every week, up to a maximum of 50 mg/kg/d, ...

Abstract

Objective

Monoallelic de novo gain‐of‐function variants in the voltage‐gated sodium channel SCN8A are one of the recurrent causes of severe developmental and epileptic encephalopathy (DEE). In addition, a small number of de novo or inherited monoallelic loss‐of‐function variants have been found in patients with intellectual disability, autism spectrum disorder, or movement disorders. Inherited monoallelic variants causing either gain or loss‐of‐function are also associated with less severe conditions such as benign familial infantile seizures and isolated movement disorders. In all three categories, ...