Epilepsia. Official Journal of the International League Against Epilepsy

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, ...

Abstract

Objective

Cannabidiol (CBD) has been approved by the US Food and Drug Administration (FDA) to treat intractable childhood epilepsies, such as Dravet syndrome and Lennox‐Gastaut syndrome. However, the intrinsic anticonvulsant activity of CBD has been questioned due to a pharmacokinetic interaction between CBD and a first‐line medication, clobazam. This recognized interaction has led to speculation that the anticonvulsant efficacy of CBD may simply reflect CBD augmenting clobazam exposure. The present study aimed to address the nature of the interaction between CBD ...

Abstract

Objective

Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data‐driven approach may augment traditional electroclinical classification and shed new light on existing classification frameworks.

Methods

We used latent class analysis, a statistical method that assigns subjects into groups called latent classes based on phenotypic elements, to classify individuals with common familial epilepsies from the Epi4K Multiplex Families study. Phenotypic elements included seizure types, seizure symptoms, and other elements of the ...

Abstract

Objective

To evaluate the impact of generalized quasiperiodic epileptiform discharges (“hurdles”) observed in non–rapid eye movement (NREM) sleep on cognitive function in children with intractable focal epilepsy. “Hurdles” pattern does not meet the criteria of the electrical status epilepticus in slow‐wave sleep (ESES).

Methods

In a retrospective analysis, 24 patients with “hurdles” and their 24 peers matched for demographic and epilepsy‐related variables were compared in terms of neuropsychological domains and electroencephalography (EEG)–derived quantifiers. Both “hurdles” and controls were children between 2 and 19 years ...

Abstract

Sleep‐related hypermotor epilepsy (SHE) is characterized by hyperkinetic seizures arising from sleep. Awake seizures occasionally occur and are associated with a worse prognosis, with important implications for driving and quality of life. We evaluated the clinical features and sleep/wakefulness distribution of seizures at onset and lifelong in a large cohort of clinical/confirmed SHE. Chi‐square test and a multivariate logistic regression model were used to identify predictors of awake seizures lifelong (primary endpoint). Positive and negative likelihood ratio (LR+, LR‐) were ...

Abstract

Objective

Multispectrum electrocorticographic components are critical for mapping the nonprimary motor area (NPMA). The objective of this study was to derive and validate a reliable scoring system for electrocorticography‐based NPMA mapping (NPMA score) to replace electrical cortical stimulation (ECS) during brain surgery.

Methods

We analyzed 14 consecutive epilepsy patients with subdural electrodes implanted in the frontal lobe at Kyoto University Hospital. The NPMA score was retrospectively derived from multivariate analysis in the derivation group (patients = 7, electrodes = 713, during 2010‐2013) and validated in the validation ...

Abstract

Objective

To estimate the comparative efficacy and safety of antiepileptic drugs (AEDs) in the elderly with new‐onset epilepsy.

Methods

We searched electronic databases for randomized controlled trials (RCTs) of monotherapy AEDs to treat epilepsy in elderly. The following outcomes were analyzed: seizure freedom and withdrawal from the study for any cause at 6 and 12 months; withdrawal from the study for any adverse event (AE) at 12 months; and occurrence of any AE at 12 months. Effect sizes were estimated by network meta‐analyses within a frequentist ...