Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

To compare the effectiveness and cost‐effectiveness of adrenocorticotropic hormone (ACTH) and oral steroids as first‐line treatment for infantile spasm resolution, we performed a systematic review, meta‐analysis, and cost‐effectiveness study.

Methods

A decision analysis model was populated with effectiveness data from a systematic review and meta‐analysis of existing literature and cost data from publicly available prices. Effectiveness was defined as the probability of clinical spasm resolution 14 days after treatment initiation.

Results

We included 21 studies with a total of 968 patients. The effectiveness of ACTH ...

Abstract

Objective

The objective of this study was to assess the value of prehospital measurement of lactate level in blood for diagnosis of seizures in cases of transient loss of consciousness.

Methods

Between March 2018 and September 2019, prehospital lactate was measured with a point‐of‐care device by the emergency medical services in an area serving a population of 900 000. A total of 383 cases of transient loss of consciousness were identified and categorized as tonic‐clonic seizure (TCS), other seizure, syncope, or other cause, according ...

Abstract

Objective

LMR‐101 is a bisphenol derivative of propofol, a short‐acting general anesthetic, which is also used to manage status epilepticus (SE). We evaluated the sedative and anticonvulsant effects of LMR‐101 to discover its potential to manage epilepsy and SE in the clinic.

Methods

Comparative studies between LMR‐101 and propofol were performed in mice to elucidate an appropriate dose range for LMR‐101 that produced anticonvulsant effects without significant sedation. Then, the anticonvulsive efficacy for LMR‐101 was evaluated using seizure models induced by pentylenetetrazol and ...

Abstract

The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol‐anchored protein (GPI‐AP) deficiency. Previous studies described seven patients with biallelic variants in the PIGS gene, of whom two presented with fetal akinesia and five with global developmental delay and epileptic developmental encephalopathy. We present the molecular and clinical characteristics of six additional individuals from five families with unreported variants in PIGS. All individuals ...

Abstract

Objective

Asparagine‐linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis.

Methods

We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants.

Results

The ...

Abstract

Objective

Mutations of the cyclin‐dependent kinase‐like 5 (CDKL5) gene cause severe neurodevelopmental disorders characterized by intractable epilepsy, intellectual disability, and autism. Multiple mouse models generated for mechanistic studies have exhibited phenotypes similar to some human pathological features, but none of the models has developed one of the major symptoms affecting CDKL5 deficiency disorder (CDD) patients: intractable recurrent seizures. As disrupted neuronal excitation/inhibition balance is closely associated with the activity of glutamatergic and γ‐aminobutyric acidergic (GABAergic) neurons, our aim was to study ...

Abstract

Objective

Sudden unexpected death in epilepsy (SUDEP) is a diagnosis of exclusion; the definition includes individuals with epilepsy who die suddenly without an identifiable toxicological or anatomical cause of death. Limited data suggest underidentification of SUDEP as the cause of death on death certificates. Here, we evaluate the autopsy‐reported cause of death in a population‐based cohort of SUDEP cases.

Methods

Case summaries of forensic autopsies conducted in Ontario, Canada between January 2014 and June 2016 were retrospectively screened using a language processing script ...

Abstract

Extensive study has demonstrated that epilepsy occurs with greater frequency at certain times in the 24‐h cycle. Although these findings implicate an overlap between the circadian rhythm and epilepsy, the molecular and cellular mechanisms underlying this circadian regulation are poorly understood. Because the 24‐h rhythm is generated by the circadian molecular system, it is not surprising that this system comprised of many circadian genes is implicated in epilepsy. We summarized evidence in the literature implicating various circadian genes such as ...

Abstract

Objective

Most seizure forecasting algorithms have relied on features specific to electroencephalographic recordings. Environmental and physiological factors, such as weather and sleep, have long been suspected to affect brain activity and seizure occurrence but have not been fully explored as prior information for seizure forecasts in a patient‐specific analysis. The study aimed to quantify whether sleep, weather, and temporal factors (time of day, day of week, and lunar phase) can provide predictive prior probabilities that may be used to improve seizure ...