Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a peculiar electro-clini... more Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a peculiar electro-clinical condition, with variable etiologies, characterized by an age-dependent phenomenon of extreme activation of epileptic activity during sleep, i.e. "status epilepticus during sleep", that is strictly associated with the appearance of cognitive and behavioral disturbances. Even though the peculiar EEG picture is fundamental for the diagnosis of ESES, clear-cut and shared diagnostic criteria for defining the EEG boundaries of this syndrome are still lacking. The diagnosis of ESES can be further complicated by the variability of the EEG findings, that during the course of the disease can change from diffuse to more or less focal and viceversa, depending both on the spontaneous clinical evolution of this condition and/or on the effects of medications. Given the complexity and the heterogeneity of EEG parameters during the ESES course, it is important to correlate the EEG findings with the concomitant cognitive and behavioral status, possibly taking into account not only the spike-wave index, but also other parameters, such as for instance the topography of the epileptic abnormalities, their patterns of spread, and their fluctuations over time. Moreover, the epileptiform activity not only during sleep, but also during wakefulness, the presence of focal slowing, the organization of the EEG background and a derangement of the sleep architecture may play a role in determining the clinical picture.
Abnormal EEG features are a hallmark of epilepsy, and abnormal frequency and network features are... more Abnormal EEG features are a hallmark of epilepsy, and abnormal frequency and network features are apparent in EEGs from people with idiopathic generalised epilepsy in both ictal and interictal states. Here, we characterise differences in the resting-state EEG of individuals with juvenile myoclonic epilepsy (JME) and assess factors influencing the heterogeneity of these EEG features. We collected EEG data from 147 participants with JME through the Biology of Juvenile Myoclonic Epilepsy (BIOJUME) study. 95 control EEGs were acquired from two independent studies (Chowdhury et al. (2014) and EU-AIMS Longitudinal European Autism Project). We extracted frequency and functional network-based features from 10-20s epochs of resting-state EEG, including relative power spectral density (PSD), peak alpha frequency, network topology measures and Brain Network Ictogenicity (BNI): a computational measure of the propensity of networks to generate seizure dynamics. The influence of covariates such a...
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizu... more Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance...
Spinal Muscular Atrophy (SMA) is an heterogeneous group of disorders characterized by anterior ho... more Spinal Muscular Atrophy (SMA) is an heterogeneous group of disorders characterized by anterior horn cell degeneration leading to progressive weakness and muscle atrophy. Phenotypical variability depends mainly on age of onset and clinical progression; moreover, some patients with atypical clinical features are described within the so called "SMA plus". We describe a 13 years old female in which clinical, neurophysiological and neuropathological data are consistent with chronic lower motor neuron disorder associated with progressive myoclonus epilepsy (PME). Genetic investigations failed to demonstrate deletions or point mutations in SMN gene, while EPM1 analysis for mutations of the cystatin B gene showed the dodecamer repeat expansion in one allele. To date only 10 patients presenting the association of a juvenile SMA with a clinical picture of PME are described; PME usually begin after the onset of weakness, and can be accompanied by mental decline and other neurological symptoms as nerve deafness. We report the first evidence of an heterozygote expansion in the gene for Cistatin B, in a patient with a "non5q-SMA" or "SMA plus" phenotype. Association of SMA type III and PME is a rare condition, but similarities to the literature cases suggest that it might represent a distinct nosological entity
Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a peculiar electro-clini... more Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a peculiar electro-clinical condition, with variable etiologies, characterized by an age-dependent phenomenon of extreme activation of epileptic activity during sleep, i.e. "status epilepticus during sleep", that is strictly associated with the appearance of cognitive and behavioral disturbances. Even though the peculiar EEG picture is fundamental for the diagnosis of ESES, clear-cut and shared diagnostic criteria for defining the EEG boundaries of this syndrome are still lacking. The diagnosis of ESES can be further complicated by the variability of the EEG findings, that during the course of the disease can change from diffuse to more or less focal and viceversa, depending both on the spontaneous clinical evolution of this condition and/or on the effects of medications. Given the complexity and the heterogeneity of EEG parameters during the ESES course, it is important to correlate the EEG findings with the concomitant cognitive and behavioral status, possibly taking into account not only the spike-wave index, but also other parameters, such as for instance the topography of the epileptic abnormalities, their patterns of spread, and their fluctuations over time. Moreover, the epileptiform activity not only during sleep, but also during wakefulness, the presence of focal slowing, the organization of the EEG background and a derangement of the sleep architecture may play a role in determining the clinical picture.
Abnormal EEG features are a hallmark of epilepsy, and abnormal frequency and network features are... more Abnormal EEG features are a hallmark of epilepsy, and abnormal frequency and network features are apparent in EEGs from people with idiopathic generalised epilepsy in both ictal and interictal states. Here, we characterise differences in the resting-state EEG of individuals with juvenile myoclonic epilepsy (JME) and assess factors influencing the heterogeneity of these EEG features. We collected EEG data from 147 participants with JME through the Biology of Juvenile Myoclonic Epilepsy (BIOJUME) study. 95 control EEGs were acquired from two independent studies (Chowdhury et al. (2014) and EU-AIMS Longitudinal European Autism Project). We extracted frequency and functional network-based features from 10-20s epochs of resting-state EEG, including relative power spectral density (PSD), peak alpha frequency, network topology measures and Brain Network Ictogenicity (BNI): a computational measure of the propensity of networks to generate seizure dynamics. The influence of covariates such a...
Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizu... more Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance...
Spinal Muscular Atrophy (SMA) is an heterogeneous group of disorders characterized by anterior ho... more Spinal Muscular Atrophy (SMA) is an heterogeneous group of disorders characterized by anterior horn cell degeneration leading to progressive weakness and muscle atrophy. Phenotypical variability depends mainly on age of onset and clinical progression; moreover, some patients with atypical clinical features are described within the so called "SMA plus". We describe a 13 years old female in which clinical, neurophysiological and neuropathological data are consistent with chronic lower motor neuron disorder associated with progressive myoclonus epilepsy (PME). Genetic investigations failed to demonstrate deletions or point mutations in SMN gene, while EPM1 analysis for mutations of the cystatin B gene showed the dodecamer repeat expansion in one allele. To date only 10 patients presenting the association of a juvenile SMA with a clinical picture of PME are described; PME usually begin after the onset of weakness, and can be accompanied by mental decline and other neurological symptoms as nerve deafness. We report the first evidence of an heterozygote expansion in the gene for Cistatin B, in a patient with a "non5q-SMA" or "SMA plus" phenotype. Association of SMA type III and PME is a rare condition, but similarities to the literature cases suggest that it might represent a distinct nosological entity
Uploads