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Objective: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome. Methods: In this multicenter retrospective cohort study, we included 267 EEM patients from nine countries. Data on electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy, and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia involving body regions other than eyelids (body‐MYO). Results: Kernel density estimation revealed a trimodal distribution of AEO, and Fisher–Jenks optimization disclosed three EEM subgroups: early onset (EO‐EEM), intermediate onset (IO‐EEM), and late onset (LO‐EEM). EO‐EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness, and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO‐EEM was associated with the highest proportion of body‐MYO and generalized tonic–clonic seizures (GTCS), whereas IO‐EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO‐EEM and LO‐EEM compared with EO‐EEM. In the subset of patients with body‐MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome. Significance: Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians toward a more accurate classification and prognostic profiling of EEM patients. [ABSTRACT FROM AUTHOR]

Purpose: Eyelid myoclonia with absences (EMA) shares some clinical characteristics with juvenile myoclonic epilepsy (JME), in which impulsivity traits have been described. Aim of the study was to evaluate whether EMA patients could present a peculiar behavioural profile.Methods: Patients with EMA, JME and healthy controls (HCs) were enrolled. Subjects with intellectual quotient <80 were excluded from the study. All the enrolled subjects underwent the Italian version of the Barratt Impulsiveness Scale (BIS-11) and the three dimensions of impulsivity (motor, attentional-cognitive and nonplanning impulsivity) were considered.Results: Seventeen patients with EMA (12 females [70.6%], age 30.8±10 years), 29 patients with JME (17 females [58.6%], age 29.1±9.7 years) and 31 HCs (15 females [48.4%], age 27.6±5.8 years) were enrolled. Both EMA and JME patients presented a borderline significantly higher BIS total score than HCs (p=0.064). EMA patients presented a significantly higher BIS nonplanning subscore than JME patients and HCs (p=0.001).Conclusion: The study showed the presence of peculiar behavioral characteristics in EMA patients, slightly different from patients with JME. [ABSTRACT FROM AUTHOR]

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic–atonic epilepsy and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a patient with a novel NEXMIF de novo mutation presenting with recurrent absence status with eyelid myoclonia, to reveal brain structural and functional changes that can bring the clinical phenotype to alteration within specific brain networks. Indeed, the alterations found in the patient involved the visual pericalcarine cortex and the middle frontal gyrus, regions that have been demonstrated to be a core feature in epilepsy phenotypes with visual sensitivity and eyelid myoclonia with absences. [ABSTRACT FROM AUTHOR]

The developmental and epileptic encephalopathies (DEE) are the most severe group of epilepsies. Recently, NEXMIF mutations have been shown to cause a DEE in females, characterized by myoclonic–atonic epilepsy and recurrent nonconvulsive status. Here we used advanced neuroimaging techniques in a patient with a novel NEXMIF de novo mutation presenting with recurrent absence status with eyelid myoclonia, to reveal brain structural and functional changes that can bring the clinical phenotype to alteration within specific brain networks. Indeed, the alterations found in the patient involved the visual pericalcarine cortex and the middle frontal gyrus, regions that have been demonstrated to be a core feature in epilepsy phenotypes with visual sensitivity and eyelid myoclonia with absences.

Eyelid myoclonia with absences is recently included in the category of childhood epileptic syndromes. It is clinically characterized by brief seizures of eyelid myoclonia, sometimes followed by absences, and it is associated to EEG generalized discharges of polyspikes or polyspike-waves, which are triggered by eyes closure in a well-lit room. This epileptic syndrome probably has a genetic origin, as well as other genetic generalized epilepsies, in particular photosensitive epilepsies. We describe the case of a patient affected by eyelid myoclonia with absences, intellectual disability, and attention deficit hyperactivity disorder (ADHD), with a de novo mutation of the RORB gene (retinoid-related orphan receptor β); this gene is involved in vivo in different neuronal processes among which are migration and differentiation. We suggest that its mutation in our patient can be considered the cause of the aberrant functioning of the cerebral cortex, which is clinically expressed by epilepsy and neurodevelopment disorders. [ABSTRACT FROM AUTHOR]

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. Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2). Moreover, although there is not enough evidence yet to consider them as candidate for EMA, three more genes present also different alterations in some patients with clinical diagnosis of the disease (SLC2A1, NAA10, and KCNB1). Therefore, a possible relationship of these genes with the disease is discussed in this review.

Purpose: Eyelid myoclonia with absences (EMA) is an epileptic syndrome characterized by eyelid myoclonia with or without absences, eyes closure-induced EEG paroxysms and photosensitivity. Pathophysiological mechanisms of visual sensitivity in EMA are not-fully understood. The objective of the present study was to analyze the electrophysiological dynamics implicated in the visual sensitivity in patients with EMA.Methods: We analyzed data of 10 subjects with diagnosis of EMA and of 10 healthy control subjects. For both patients and controls, 4-seconds artifacts-free electroencephalographic signal epochs recorded were analyzed, during resting state, eyes-opened and eyes-closed tasks. Resting state networks in EEG have been computed using independent components analysis (ICA) LORETA. Moreover, the power law exponent β was obtained for each coordinate as minus the slope of the power spectrum versus frequency in a Log-Log scale.Results: Using LORETA ICA, patients during resting state showed significant differences as compared to controls with a reduction of the physiological alpha activity over the occipital lobe and of the physiological beta activity over the frontal lobe. Immediately after eye closure, a significant increase of beta activity over the frontal lobe was found in the group of patients compared to controls. Power law exponent β analysis showed a significant increase of β over the frontal regions in patients as compared to controls during resting-state and an increase of β over the parieto-occipital regions after eye closure.Conclusion: Abnormal occipital and frontal cortex activities seem to be related with the visual sensitivity and eyelid myoclonia observed in patients with EMA. [ABSTRACT FROM AUTHOR]

Objective: Eyelid myoclonia with absences (EMA) is a syndrome characterized by eyelid myoclonia with or without absences, eye closure‐induced generalized electroencephalographic (EEG) paroxysms and photosensitivity. Few data are available about the prognostic factors of this syndrome. The main objectives of our study were to describe the clinical and EEG features of a group of patients with EMA and to evaluate the presence of prognostic factors. Methods: We retrospectively selected a cohort of patients with diagnosis of EMA evaluated in the epilepsy service of the Neurological Clinic of Catania, in the Neurology and Clinical Neurophysiopathology Unit of Oasi Research Institute, Troina and in the Regional Epilepsy Centre of Bianchi‐Melacrino‐Morelli Hospital of Reggio Calabria. We considered the features of the patients during the first year of disease, and at the last follow‐up visit. We stratified the patients into two groups: "seizure‐free", defined as the absence of seizures for at least 2 years, and "not seizure‐free" and we evaluated the evolution of their characteristics and the presence of factors associated with outcome. Results: We enrolled 51 patients (40 women (78%); mean age: 30.8 years ± 15.5 [range 10‐79]). The mean follow‐up time was 8.7 ± 5.8 years. Eleven patients (21.6%) achieved the condition of seizure‐free. Family history of epilepsy was associated with the condition of seizure‐free (P = 0.05). At the last follow‐up visit, EEG photosensitivity and eye closure sensitivity were significantly associated with the condition of "not seizure‐free". Significance: The results of our study revealed that a positive family history of epilepsy might be associated with a better outcome in EMA. Furthermore, the persistence of photosensitivity and eye closure sensitivity might indicate persistence of seizures, offering an aid in therapeutic management. [ABSTRACT FROM AUTHOR]

Investigators from multinational institutions hypothesized that disruption of CHD2, which encodes chromodomain helicase DNA-binding protein 2, would be associated with common forms of photosensitive epilepsy or photosensitivity manifesting as a photoparoxysmal response alone.

Epileptic seizures and headache attacks are two common neurologic phenomena characterized by paroxysmal alteration of brain functions followed by complete restauration of the baseline condition. Headache and epilepsy are related in numerous ways, and they often co-occur. Although the link between these two diseases is not completely clear, several clinical, physiopathological and therapeutic features overlap. Headache is reported in association with epileptic seizures as a pre-ictal, ictal or post-ictal phenomenon. We present the case of a 40 year-old woman affected by eyelid myoclonia with absences (EMA) with a history of prolonged headache attacks. A video-EEG recording performed during one of these episodes showed subcontinuous epileptic activity consisting of generalized spike-and-wave discharges (GSWDs), clinically associated with tensive headache. Our work represents one of the few well EEG-documented cases of ictal epileptic headache in idiopathic generalized epilepsy (IGE). [ABSTRACT FROM AUTHOR]

Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) consists of a triad of symptoms including eyelid myoclonia that may be accompanied by absence seizures, eye closure-induced EEG paroxysms or seizures, and photosensitivity. The age of onset ranges between 2 and 14 years with symptoms peaking between 6 and 8 years of age. Though investigation of the clinical, EEG, and neurological features of JS has occurred, neurocognitive functioning has not been well-delineated despite suggestion that a subtype of the syndrome is characterized in part by cognitive impairment. The purpose of this study was to define neurocognitive functioning in a more detailed manner by examining global IQ and relevant neurocognitive domains (i.e., verbal and nonverbal reasoning, attention, executive functioning, memory) in pediatric patients. The sample (N = 6, 4 females) ranged in age from 8 to 15 years ( M = 11, SD = 2.82). All participants completed neuropsychological evaluations. Statistical analyses revealed performance that was below average on measures of global IQ, processing speed and rote, verbal learning coupled with average nonverbal reasoning, and sustained attention. There was also evidence of impaired higher-level verbal reasoning. While global IQ ranged from low average to borderline impaired, no participant could be accurately described as impaired or having intellectual disability (ID) given the consistently average performance noted on some higher-order tasks including nonverbal reasoning. [ABSTRACT FROM AUTHOR]

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2-17 × 10-5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3-50 × 10-4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability. [ABSTRACT FROM AUTHOR]

Objectives Eyelid myoclonia (EM), without or with absences (EMA), is induced by eye closure (ECL)-associated generalized paroxysms of polyspikes and waves. Although considered as an epileptic syndrome, it has been listed as a type of seizure in the recent epilepsy classifications, perhaps because of its clinical heterogeneity. In this study, we aimed to specifically study the clinical and electroencephalogram (EEG) features and the prognosis of long-term followed-up adult patients with EMs and to determine common points between EMAs, idiopathic generalized epilepsies (IGEs), and symptomatic epilepsies. Methods Between 1996 and November 2011, 61 adult patients with EMs with or without absences and bilateral EEG paroxysms were retrospectively enrolled in the study and followed up for 1–34 years (mean: 5.8 years). Results According to patient history, seizure semiology, and EEG findings, we classified the patients having EM seizures into three main groups. In group 1 (n = 31), all patients had prominent EMs with or without absences associated with upward rolling of eyeballs. The second group included 20 patients with EM seizures associated with generalized tonic–clonic seizures (GTCSs) and/or massive myoclonias. The third group of 7 patients had varying diagnosis of symptomatic epilepsies. In the first group with pure EMA, the diagnosis was more delayed than in the other groups (p = 0.01). In the group with pure EMA, EMs continued in adulthood (p = 0.00), and only 24% of patients were seizure-free, which was considered poor prognosis. On EEG, occipital (n = 3) and frontal (n = 4) focal discharges were found in the group with pure EMA. Interestingly, 2 patients with symptomatic epilepsy with frontal lesions also had EM seizures. Conclusion The patients with pure EMA have many similarities to patients with IGEs. We also demonstrated that EMs could be seen as a seizure type in symptomatic epilepsies. Eyelid myoclonia with absences meets the criteria for an epileptic syndrome with the early onset and long duration of seizures, special seizure type, specific EEG findings, possibility of cognitive impairment, precipitating modalities, photosensitivity, and presence of family history, suggesting a strong genetic background. [ABSTRACT FROM AUTHOR]

Purpose: Eyelid myoclonia with absences (EM) is an uncommon type of absence seizure associated with a variety of epilepsy syndromes. The syndrome of epilepsy with EM (EMA) has been proposed to denote the onset of frequent EM induced by eye closure and photic stimulation beginning in childhood. The clinical genetics of EMA has not been well characterized, although a family history of seizures is not infrequent. Methods: Individuals with EMA were ascertained by referral and through the investigators' clinical practices. All available family members were assessed for seizures using a validated seizure questionnaire. Electroclinical data were obtained on each proband and all affected family members; pedigrees were constructed. Families were analyzed for phenotypic patterns. Key Findings: Eighteen individuals with EMA were recruited. A history of seizures was found in 34 relatives in 15 (83%) of 18 families. In terms of epilepsy syndromes, 9 relatives from 7 of 15 families had febrile seizures. Two relatives had EMA. Classical genetic generalized epilepsy (GGE) syndromes were seen in five relatives: two generalized tonic-clonic seizures alone, two childhood absence epilepsy (CAE), and one juvenile myoclonic epilepsy (JME). Genetic epilepsy with febrile seizures plus (GEFS+) phenotypes occurred in 16 relatives. On review of the epilepsy syndromes within each family, seven families had a pattern consistent with GEFS+, whereas three families had classical GGE. Significance: The clinical genetics of EMA is suggestive of complex inheritance with shared genetic determinants overlapping with both classical GGE and GEFS+. The epilepsy syndromes in relatives of probands with EMA differ from those found in families of probands with CAE, supporting the concept that patients with EMA have a syndrome that is distinct from CAE. This presumably reflects different genetic components contributing to their genetic architecture. [ABSTRACT FROM AUTHOR]

Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic–clonic seizures may also occur. Although first described in 1977 and widely reported by several authors within the last few years, EMA has not been yet recognized as a definite epileptic syndrome. However, when strict criteria are applied to the diagnosis, EMA appears to be a distinctive condition that could be considered a myoclonic epileptic syndrome, with myoclonia limited to the eyelids, rather than an epileptic syndrome with absences. [ABSTRACT FROM AUTHOR]

Abstract: “Eyelid myoclonia with and without absences” has been incorporated into the new ILAE diagnostic scheme as a type of epileptic seizure with etiologic, therapeutic, and prognostic implications. Eyelid myoclonia with absences (EMA) is characterized by eyelid myoclonia and absences provoked mainly by eye closure and photosensivity. EMA can be a part of idiopathic, symptomatic, or probably symptomatic epileptic syndromes. EMA is the defining seizure symptom that differentiates the idiopathic reflex epileptic syndrome Jeavons syndrome from eyelid myoclonia with absences. Jeavons syndrome is characterized by unique clinical and electroencephalographic features and often genetic clustering. EMA is easily diagnosed by clinical manifestations and properly conducted electroencephalography. However, it is often misdiagnosed as tics or other types of epileptic seizures and syndromes, particularly in patients with mental retardation, behavioral disturbances, and atypical electroencephalographic findings. We describe a 19-year-old woman with EMA who remained undiagnosed for many years. She was mildly mentally retarded and her electroencephalogram showed slow background activity, which are unusual findings in Jeavons syndrome. [Copyright &y& Elsevier]

Describes a case of eyelid myoclonia with absences (EMA) in monozygotic twins. Details of the patient's eyelid myoclonia; Data on clinical manifestations in the twins' cases; Factors that could trigger EMA, including sleep deprivation and fatigue.

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. Based on this, four genes could be associated to this syndrome (SYNGAP1, KIA02022/NEXMIF, RORB, and CHD2). Moreover, although there is not enough evidence yet to consider them as candidate for EMA, three more genes present also different alterations in some patients with clinical diagnosis of the disease (SLC2A1, NAA10, and KCNB1). Therefore, a possible relationship of these genes with the disease is discussed in this review. [ABSTRACT FROM AUTHOR]

Abstract: We describe a 15-year-old boy with learning difficulties and eyelid myoclonia with absences (EMA). Myoclonic jerks of the extremities and trunk occurred 9 years before the onset of EMA, when the patient was 6. At that time, we diagnosed him with cryptogenic myoclonic epilepsy of early childhood, because he manifested mainly myoclonic jerks with generalized 3- to 6-Hz spike/polyspike-and-slow-wave complexes on EEG, normal neurological examination, good response to antiepileptic drugs, and no evidence of previous brain damage. This is an unusual case showing that myoclonic epilepsy of early childhood can evolve to EMA. Although the question of whether EMA is a seizure type or an epilepsy syndrome remains controversial, our case suggests that EMA is a seizure type during the clinical course of a particular kind of myoclonic epilepsy. [Copyright &y& Elsevier]