Jeavon's

Eyelid myoclonia with absences (EMA) is an epileptic syndrome characterised by eyelid myoclonia with or without absences, eye closure-induced paroxysms, and photosensitivity. The relationship between EMA and epileptic negative myoclonus has not previously been reported. Herein, we describe a case of a 10-year-old girl who presented with eyelid myoclonia, eye closure-induced paroxysms, and photosensitivity, which was compatible with the diagnosis of EMA. Ictal EEG depicted an eye closure-induced diffuse 3.0-4...

Epilepsy with eyelid myoclonia or Jeavons Syndrome (JS) is a childhood genetic generalized epilepsy. Its clinical features include eyelid myoclonia (hallmark) with or without brief absences, eyelid closure-induced seizures and/or electroencephalographic (EEG) paroxysms (generalized polyspikes and/or generalized spike-wave activity at 3-6 Hz, elicited by closure of eyelid) and photosensitivity. Broad-spectrum anti-seizure medications are often utilized for the management of JS patients. A wide variety of medications may be utilized especially in refractory cases...

Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as "all focal epilepsy" and "all genetic generalized epilepsy". In addition, phenotypic data are generally entered into these large discovery databases in a unidirectional manner at one point in time only. However, there are many smaller phenotypic subgroupings in epilepsy, many of which may have unique genomic risk factors. Such a subgrouping or "microphenotype" may be defined as an uncommon or rare phenotype that is well recognized by epileptologists and the epilepsy community, and which may or may not be formally recognized within the International League Against Epilepsy classification system...

The southern North Sea holds the world's highest concentration of offshore wind farms (OWFs). Northern gannets (Morus bassanus), a species considered at high risk from OWF impacts, show a strong seasonal peak there in November, but it is unclear which populations and age classes are most at risk of collision with wind turbines. We tagged adult and juvenile gannets at the world's largest colony (Bass Rock) and reviewed two sources of survey data for different age classes to study their movements through southern North Sea waters...

BACKGROUND AND PURPOSE: Dual-layer spectral CT is a novel technology that utilized conventional single-tube CT acquisition with a dual-layer detector for the separation of high and low-energy photons to create spectral data for material decomposition. We evaluated the spectral parameters of iodine density and Z-effective values in primary head and neck squamous cell carcinoma and determined its impact on local tumor staging. MATERIALS AND METHODS: Twenty-one patients with primary head and neck squamous cell carcinoma and 15 healthy controls were retrospectively evaluated...

Genetic generalized epilepsies (GGEs) include well-established epilepsy syndromes with generalized onset seizures: childhood absence epilepsy, juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), myoclonic absence epilepsy, epilepsy with eyelid myoclonia (Jeavons syndrome), generalized tonic-clonic seizures, and generalized tonic-clonic seizures alone. Genome-wide association studies (GWASs) and exome sequencing have identified 48 single-nucleotide polymorphisms (SNPs) associated with GGE. However, these studies were mainly based on non-admixed, European, and Asian populations...

The purpose of this review is to provide a comprehensive update and highlight the distinct electroclinical features and discuss recent advances in the etiology, pathophysiology, and management strategies of epilepsy with eyelid myoclonia. Recent studies indicate that variations of certain genes including CHD2 (chromodomain helicase DNA-binding protein 2), KCNB1, KIAA2022, and NAA10 may occur in these patients. It has been postulated that the occipital cortex may play a role in the pathophysiology. Recent studies of functional imaging and connectivity of neuronal electrical activity have provided additional evidence to support this hypothesis...

OBJECTIVE: To determine whether high-dose, oral pyridoxine in combination with standard adrenocorticotropic hormone (ACTH) therapy has superior effectiveness than ACTH therapy alone in increasing cessation of epileptic spasms for children with West syndrome. METHODS: This study was an open-label, randomized controlled trial with masked endpoint assessments. Eligible children with West syndrome, age ranged 3-18 months, were randomized into the intervention (n = 43) and the standard arm (n = 37) of therapy...

Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or electroencephalogram (EEG) paroxysms induced by eye closure. Although a genetic contribution to this syndrome is likely and some genetic alterations have been defined in several cases, the genes responsible for have not been identified. In this review, patients diagnosed with EMA (or EMA-like phenotype) with a genetic diagnosis are summarized...

Epileptic syndromes are well-defined conditions comprising particular clinical features [seizure types, age of onset, response to treatment] and characteristic electroencephalographic changes, while their etiology and subsequent prognosis may vary. The recognition of these syndromes is fundamental for pediatric neurology practice, representing an essential learning topic in this field. Nevertheless, many epileptic syndromes are still quite unfamiliar to students, residents and even neurologists, because of their low incidence and their minimal representation in the literature...

Eyelid myoclonus with or without absence epilepsy is a rare and usually misdiagnosed disease in the neurology department. It is an idiopathic general epileptic syndrome, the onset period is 6-8 years, and is more common in girls. It is characterized by rapid abnormal eye blinking, accompanied by upward rolling of the eye and slight backward movement of the head, with eye closure sensitivity and photosensitivity. The seizure is frequent and short, dozens or even hundreds of times a day; a small number of patients may have eyelid myoclonus status...

PURPOSE: To describe the typical and atypical clinical and electroencephalographic (EEG) features of 40 patients with Jeavons syndrome (JS). METHOD: Retrospective analysis from two French tertiary centers. RESULTS: Forty patients were enrolled (31 females and 9 males; sex ratio F/M = 3.44; mean age at epilepsy onset: 6.2 ± 3.4 years [range: 1-15 years]). A positive family history of generalized genetic epilepsy was reported by 13 patients (32...

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There is a pressing need to quantify the risks of renewable energy developments such as offshore wind farms for protected populations. However, assessments are often based on incomplete data, or fail to consider variation in risk between sexes and at different times of year. We tracked northern gannets foraging from the world's largest colony (Bass Rock, Scotland) across five consecutive breeding seasons. We examine how seasonal and sex differences in behaviour affect the collision risk from planned and operational wind farms within their foraging range and assess the likely consequences for long-term population viability...

Jeavons syndrome is a childhood genetic generalized epilepsy characterized by eyelid myoclonia with or without absences, eyelid closure-induced epileptiform discharges and/or seizures and photoparoxysmal response. This syndrome accounts for up to 12.9% of generalized epilepsies, however, it is frequently under-reported. The utility of lacosamide in genetic generalized epilepsy and Jeavons syndrome is unclear. We present a case of a 15-year-old female with medically refractory Jeavons syndrome with seizure resolution in response to lacosamide monotherapy at standard daily doses...

Brivaracetam (BRV) is a new antiseizure medication (ASM) that is currently approved for adjunctive treatment in patients with focal onset seizures. Similarly to levetiracetam (LEV), BRV works by binding SV2A vesicles with a high affinity and a linear pharmacokinetic profile. Retrospective studies and randomized clinical trials have already proven the efficacy of BRV, even in patients who failed treatment with LEV. Most studies about the efficacy and tolerability conducted so far were performed in adult cohorts, whereas few studies have been performed in children; however, BRV was proven to be a useful ASM for pediatric focal epilepsies, with fewer studies and conflicting results among patients with generalized epilepsies and epileptic syndromes...

Jeavons syndrome (JS) is mainly characterized by eyelid myoclonia with or without absences. It is thought to be underdiagnosed rather than have a rare prevalence. We aimed to investigate the electroclinical features of JS to determine possible factors influencing the diagnosis. We retrospectively identified the medical records of 32 cases (0.55%) from 5,796 patients with epilepsy. The inclusion criteria were: (1) eyelid myoclonia with or without absences; (2) generalized paroxysmal activity on EEG; and (3) discharges triggered by eyelid closure and/or intermittent photic stimulation...

PURPOSE: We compared various syndromes of idiopathic (genetic) generalized epilepsy (IGE) with absences based on their demographic, clinical, and electroencephalographic (EEG) findings, and their seizure outcome. METHODS: In this retrospective study, all patients with a clinical diagnosis of childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), idiopathic epilepsy with phantom absences (PAs), and Jeavons syndrome (JS) were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences, from 2008 until 2019...

Epilepsy with eyelid myoclonia or Jeavons Syndrome is a unique idiopathic generalized epilepsy with onset in childhood. It is characterized by eyelid myoclonia which may be associated with absence seizures, eyelid closure-induced epileptiform discharges and/or seizures and photosensitivity. It is frequently underrecognized and misdiagnosed because it may be mistaken for some other type of generalized epilepsy or facial tic disorder. The intent of this narrative review is to focus on existing literature and highlight the distinct electroencephalographic features including characteristic eye movements, associated waveforms, interictal and ictal findings that are suggestive and characteristic of Jeavons Syndrome to aid in timely recognition of this syndrome...

INTRODUCTION: This study aims to evaluate discrepant findings between positron emission tomography/magnetic resonance imaging (PET/MRI) and positron emission tomography/computed tomography (PET/CT) in a cohort of oncological patients and to undertake a phantom study to assess the potential for extended PET acquisitions to lead to false-positive findings on PET/MRI. METHODS: Discrepant findings from a series of 106 patients undergoing same-day 18 F-fluorodeoxyglucose (FDG)-PET/CT and PET/MRI were reviewed...