Psychiatric comorbidity in relation to clinical characteristics of epilepsy: A retrospective observational study.

PURPOSE: Prevalence of psychiatric disorders in people with epilepsy is high. However, diagnostic validity and information about the nature of the seizure disorders are often poor in population-based studies. In a well validated and classified patient sample, we investigated psychiatric comorbidity according to clinical characteristics. METHOD: Participants in The Trøndelag Health Study (HUNT) with ≥ 2 diagnostic epilepsy codes during 1987-2019 were identified. Medical records were reviewed, and epilepsy was validated and classified according to ILAE. Psychiatric comorbidity was defined by ICD-codes. RESULTS: In 448 individuals with epilepsy, 35% had at least one psychiatric disorder (anxiety and related disorders 23%, mood disorders 15%, substance abuse and personality disorders 7%, and psychosis 3%). Comorbidity was significantly higher in women than in men (p = 0.007). The prevalence of psychiatric disorders was 37% in both focal and generalized epilepsy. In focal epilepsy, it was significantly lower when etiology was structural (p = 0.011), whereas it was higher when the cause was unknown (p = 0.024). Comorbidity prevalence was 35% both in patients achieving seizure freedom and in those with active epilepsy but 38% among 73 patients with epilepsy resolved. CONCLUSION: Just over one third of people with epilepsy had psychiatric comorbidities. The prevalence was equal in focal and generalized epilepsy but was significantly higher in focal epilepsy of unknown cause compared to lesional epilepsy. Comorbidity was independent of seizure control at last follow-up but was slightly more common in those with resolved epilepsy, often having non-acquired genetic etiologies possibly linked to neuropsychiatric susceptibility.

Association of Dementia Risk With Focal Epilepsy and Modifiable Cardiovascular Risk Factors.

Importance: Epilepsy has been associated with cognitive impairment and potentially dementia in older individuals. However, the extent to which epilepsy may increase dementia risk, how this compares with other neurological conditions, and how modifiable cardiovascular risk factors may affect this risk remain unclear. Objective: To compare the differential risks of subsequent dementia for focal epilepsy compared with stroke and migraine as well as healthy controls, stratified by cardiovascular risk. Design, Setting, and Participants: This cross-sectional study is based on data from the UK Biobank, a population-based cohort of more than 500 000 participants aged 38 to 72 years who underwent physiological measurements and cognitive testing and provided biological samples at 1 of 22 centers across the United Kingdom. Participants were eligible for this study if they were without dementia at baseline and had clinical data pertaining to a history of focal epilepsy, stroke, or migraine. The baseline assessment was performed from 2006 to 2010, and participants were followed up until 2021. Exposures: Mutually exclusive groups of participants with epilepsy, stroke, and migraine at baseline assessment and controls (who had none of these conditions). Individuals were divided into low, moderate, or high cardiovascular risk groups based on factors that included waist to hip ratio, history of hypertension, hypercholesterolemia, diabetes, and smoking pack-years. Main Outcomes and Measures: Incident all-cause dementia; measures of executive function; and brain total hippocampal, gray matter, and white matter hyperintensity volumes. Results: Of 495 149 participants (225 481 [45.5%] men; mean [SD] age, 57.5 [8.1] years), 3864 had a diagnosis of focal epilepsy only, 6397 had a history of stroke only, and 14 518 had migraine only. Executive function was comparable between participants with epilepsy and stroke and worse than the control and migraine group. Focal epilepsy was associated with a higher risk of developing dementia (hazard ratio [HR], 4.02; 95% CI, 3.45 to 4.68; P < .001), compared with stroke (HR, 2.56; 95% CI, 2.28 to 2.87; P < .001), or migraine (HR, 1.02; 95% CI, 0.85 to 1.21; P = .94). Participants with focal epilepsy and high cardiovascular risk were more than 13 times more likely to develop dementia (HR, 13.66; 95% CI, 10.61 to 17.60; P < .001) compared with controls with low cardiovascular risk. The imaging subsample included 42 353 participants. Focal epilepsy was associated with lower hippocampal volume (mean difference, -0.17; 95% CI, -0.02 to -0.32; t = -2.18; P = .03) and lower total gray matter volume (mean difference, -0.33; 95% CI, -0.18 to -0.48; t = -4.29; P < .001) compared with controls. There was no significant difference in white matter hyperintensity volume (mean difference, 0.10; 95% CI, -0.07 to 0.26; t = 1.14; P = .26). Conclusions and Relevance: In this study, focal epilepsy was associated with a significant risk of developing dementia, to a greater extent than stroke, which was magnified substantially in individuals with high cardiovascular risk. Further findings suggest that targeting modifiable cardiovascular risk factors may be an effective intervention to reduce dementia risk in individuals with epilepsy.

Mood and Anxiety Disorders and Suicidality in Patients With Newly Diagnosed Focal Epilepsy: An Analysis of a Complex Comorbidity.

BACKGROUND AND OBJECTIVES: Mood, anxiety disorders, and suicidality are more frequent in people with epilepsy than in the general population. Yet, their prevalence and the types of mood and anxiety disorders associated with suicidality at the time of the epilepsy diagnosis are not established. We sought to answer these questions in patients with newly diagnosed focal epilepsy and to assess their association with suicidal ideation and attempts. METHODS: The data were derived from the Human Epilepsy Project study. A total of 347 consecutive adults aged 18-60 years with newly diagnosed focal epilepsy were enrolled within 4 months of starting treatment. The types of mood and anxiety disorders were identified with the Mini International Neuropsychiatric Interview, whereas suicidal ideation (lifetime, current, active, and passive) and suicidal attempts (lifetime and current) were established with the Columbia Suicidality Severity Rating Scale (CSSRS). Statistical analyses included the t test, χ2 statistics, and logistic regression analyses. RESULTS: A total of 151 (43.5%) patients had a psychiatric diagnosis; 134 (38.6%) met the criteria for a mood and/or anxiety disorder, and 75 (21.6%) reported suicidal ideation with or without attempts. Mood (23.6%) and anxiety (27.4%) disorders had comparable prevalence rates, whereas both disorders occurred together in 43 patients (12.4%). Major depressive disorders (MDDs) had a slightly higher prevalence than bipolar disorders (BPDs) (9.5% vs 6.9%, respectively). Explanatory variables of suicidality included MDD, BPD, panic disorders, and agoraphobia, with BPD and panic disorders being the strongest variables, particularly for active suicidal ideation and suicidal attempts. DISCUSSION: In patients with newly diagnosed focal epilepsy, the prevalence of mood, anxiety disorders, and suicidality is higher than in the general population and comparable to those of patients with established epilepsy. Their recognition at the time of the initial epilepsy evaluation is of the essence.

Seizure Analysis Presented to Emergency Department in Saudi Arabia: New VS Chronic Cases.

Background: Epilepsy, characterized by recurrent unprovoked seizures, poses a significant global burden on individuals and healthcare systems. Accurate identification of underlying causes is vital for optimal intervention. However, studies reveal a lack of standardized approaches, potentially resulting in unnecessary investigations. Objective: We aimed to highlight the importance of avoiding unnecessary testing to minimize healthcare costs and resource waste. Methods: In the Emergency Department of King Fahd Hospital of the University (KFUH) in Alkhobar, a retrospective cross-sectional study encompassed 190 patients presenting with seizures from January 1, 2020, to December 31, 2022. The study aimed to elucidate the epidemiological profile and distinguish clinical and demographic factors between new onset seizures and known cases. Results: The study included 190 epilepsy cases, with 51.1% known and 48.9% new onset. Generalized tonic-clonic seizures were prominent (43.2%), and non-compliance (24.2%) was a leading cause. New onset seizures were associated with abnormal CT findings (p=0.025), drug use (74.2%), and intoxication (6.5%). Demographically, Saudis showed higher new onset prevalence (82.8%, p=0.001). Conclusion: The average length of stay was 5.93 hours, and the distribution of new vs. known cases was nearly equal among the 190 patients. Laboratory findings showed no significant associations with either group, mostly falling within the normal range. To optimize care further, we recommend continued refinement of protocols, emphasis on medication compliance.

Clinical characteristics of patients with epilepsy attending primary health care. / Características clínicas de pacientes con epilepsia atendidos en la atención primaria.

OBJECTIVE: This study aimed to fill the current knowledge gap in the literature by identifying the demographic and clinical characteristics of patients with epilepsy attending primary health care (PHC). PATIENTS AND METHODS: This was a cross-sectional study involving adults (= 18 years of age) with epilepsy attending PHC from a developing country between 2015 and 2019. Demographic information and epilepsy-related data were collected. RESULTS: A total of 140 patients (51.4% male; mean [± SD] age 44.9 ± 17.8 years) were evaluated. The mean age at onset of seizures was 29.9 ± 22.9 years, with a mean evolution of 14.3±15.4 years. Focal seizures accounted for 88.57% of cases and evolved into bilateral tonic-clonic attack (45.16%). Of those that were generalized, motor seizures accounted for 81.82%, absence 9.09%, and motor + absence 9.09%. Among generalized onset motor seizures, tonic-clonic was predominant, accounting for 55.56%. Among types, focal epilepsy predominated (88.57%). The primary etiologies were unknown (62.14%), structural causes (27.85%) and infectious (9.28%). Patients undergoing monotherapy accounted for 66.1%, with epilepsy control in 92.4%. The most commonly used antiepileptic drugs were carbamazepine (33.1%), valproic acid (28.2%), and phenobarbital (10.4%). CONCLUSIONS: Male sex, seizures, and focal epilepsy were prevalent. Magnetic resonance imaging was more useful than computed tomography. Most etiologies were unknown; however, mesial temporal sclerosis and neurocysticercosis were the most prevalent known causes. Most patients were controlled using a monotherapy regimen. The implementation of International League Against Epilepsy classifications and definitions was feasible and useful.

TITLE: Características clínicas de pacientes con epilepsia atendidos en la atención primaria.Objetivo. Este estudio tuvo como objetivo llenar el vacío de conocimiento actual en la bibliografía mediante la identificación de las características demográficas y clínicas de los pacientes con epilepsia que asisten a la atención primaria de salud. Pacientes y métodos. Éste fue un estudio transversal que involucró a adultos (18 años o mayores) con epilepsia que asistieron a atención primaria de salud de un país en desarrollo entre 2015 y 2019. Se recopilaron información demográfica y datos relacionados con la epilepsia. Resultados. Se evaluó a un total de 140 pacientes ­51,4%, varones; edad media (± desviación estándar), 44,9 ± 17,8 años­. La edad media de inicio de las crisis fue de 29,9 ± 22,9 años, con una evolución media de 14,3 ± 15,4 años. Las crisis focales presentes en el 88,57% de los casos y evolucionaron a crisis tonicoclónicas bilaterales (45,16%). De las generalizadas, las crisis motoras predominaron con el 81,82%; las ausencias, el 9,09%; y las motoras + ausencias, el 9,09%. Entre las crisis motoras de inicio generalizado, predominó la tonicoclónica, con un 55,56%. Entre los tipos, predominó la epilepsia focal (88,57%). Las etiologías primarias fueron desconocidas (62,14%), causas estructurales (27,85%) e infecciosas (9,28%). Los pacientes en monoterapia representaron el 66,1%, con control de la epilepsia en el 92,4%. Los fármacos antiepilépticos más utilizados fueron la carbamacepina (33,1%), el ácido valproico (28,2%) y el fenobarbital (10,4%). Conclusiones. Predominaron el sexo masculino, las convulsiones y la epilepsia focal. La resonancia magnética fue más útil que la tomografía computarizada. La mayoría de las etiologías se desconocían; sin embargo, la esclerosis temporal mesial y la neurocisticercosis fueron las causas conocidas más prevalentes. La mayoría de los pacientes se controlaron con un régimen de monoterapia. La implementación de las clasificaciones y definiciones de la Liga Internacional contra la Epilepsia fue factible y útil.

A tale of two cohorts: Differing outcomes in infantile-onset focal epilepsy.

OBJECTIVE: Infants with focal-onset epilepsy are an understudied population, requiring additional evaluation for clinical assessment and prognostication. Our goal was to characterize the etiology and natural history of infantile-onset focal epilepsy. METHODS: We retrospectively identified all infants (0-24 months) with onset of focal epilepsy while resident in Olmsted County, Minnesota, between 1980 and 2018, using the Rochester Epidemiology Project Database. We assessed the impact of etiology on both seizure and neurodevelopmental outcome, and mortality. RESULTS: Of 686 children with epilepsy onset <18 years, 125 (18.2%) presented with focal-onset seizures in infancy. Median follow-up for this group was 10.9 years (interquartile range [IQR] 6.2, 19.3). Etiology was identified in 65.6% (structural N = 62, genetic N = 13, both structural and genetic N = 3, metabolic N = 4). Of 107 patients followed >2 years, 38 (35.5%) developed drug-resistant epilepsy (DRE). DRE was more likely with younger age at onset, known etiology, and presence of epileptic spasms. Sixty-eight (63.0% of those with follow-up) were developmentally delayed at last follow-up, and known etiology, DRE, and presence of epileptic spasms were significantly associated with delay (p < .001 for all). Fifteen patients (12.0%) died at a median age of 7.1 years (IQR 1.7, 21.7), but only one death was seizure related (suspected sudden unexpected death in epilepsy [SUDEP]). Of 20 infants with normal development at onset and no known etiology with >2 years follow-up, none developed DRE, all were seizure-free at last follow-up (95% off antiseizure medications [ASMs]), and all remained developmentally normal. SIGNIFICANCE: Infantile-onset focal epilepsy accounts for 18% of all epilepsy in childhood, is frequently due to known etiologies, and has a high rate of DRE. However, developmentally normal infants without a known cause appear to have a very favorable course.

Coffee consumption and seizure frequency in patients with drug-resistant focal epilepsy.

OBJECTIVE: To assess the relation between coffee consumption and seizure frequency in patients with drug-resistant focal epilepsy. METHODS: Cross-sectional analysis of data collected in the SAVE study, which included patients with drug-resistant focal epilepsy during long-term EEG monitoring. Patients in whom both coffee consumption and data about seizure frequency, including focal to bilateral tonic-clonic seizures (FBTCS), were available were selected. Coffee consumption was collected using a standardized self-report questionnaire and classified into four groups: none, rare (from less than 1 cup/week to up 3 cups/week), moderate (from 4 cups/week to 3 cups/day), and high (more than 4 cups/day). RESULTS: Six hundred and nineteen patients were included. There was no relation between coffee consumption and total seizure frequency (p = 0.902). In contrast, the number of FBTCS reported over the past year was significantly associated with usual coffee consumption (p = 0.029). Specifically, number of FBCTS in patients who reported moderate coffee consumption was lower than in others. In comparison with patients with moderate coffee consumption, the odds ratio (95%CI) for reporting at least 1 FBTCS per year was 1.6 (1.03-2.49) in patients who never take coffee, 1.62 (1.02-2.57) in those with rare consumption and 2.05 (1.24-3.4) in those with high consumption. Multiple ordinal logistic regression showed a trend toward an association between coffee consumption and number of FBTCS (p = 0.08). CONCLUSIONS AND RELEVANCE: Our data suggest that effect of coffee consumption on seizures might depend on dose with potential benefits on FBTCS frequency at moderate doses. These results will have to be confirmed by prospective studies.

Association Between Migraine Comorbidity and Psychiatric Symptoms Among People With Newly Diagnosed Focal Epilepsy.

OBJECTIVE: Little is known about psychiatric symptoms among patients with migraine and newly diagnosed focal epilepsy. The investigators compared symptoms of depression, anxiety, and suicidality among people with newly diagnosed focal epilepsy with migraine versus without migraine. METHODS: The Human Epilepsy Project is a prospective multicenter study of patients with newly diagnosed focal epilepsy. Depression (measured with the Center for Epidemiologic Studies Depression Scale), anxiety (measured with the 7-item Generalized Anxiety Disorder scale), and suicidality scores (measured with the Columbia-Suicide Severity Rating Scale [C-SSRS]) were compared between participants with versus without migraine. Data analysis was performed with the Kolmogorov-Smirnov test for normality assessment, the Mann-Whitney U test, chi-square test, and linear regression. RESULTS: Of 349 patients with new-onset focal epilepsy, 74 (21.2%) had migraine. There were no differences between the patients without migraine versus those with migraine in terms of age, race, and level of education. There were more women in the group with migraine than in the group without migraine (75.7% vs. 55.6%, p=0.0018). The patients with epilepsy and comorbid migraine had more depressive symptoms than the patients with epilepsy without migraine (35.2% vs. 22.7%, p=0.031). Patients with epilepsy with comorbid migraine had more anxiety symptoms than patients with epilepsy without migraine, but this relation was mediated by age in logistic regression, with younger age being associated with anxiety. Comorbid migraine was not associated with C-SSRS ideation or behavior. CONCLUSIONS: Among a sample of patients with newly diagnosed focal epilepsy, 21.2% had migraine. Migraine comorbidity was associated with higher incidence of depressive symptoms. Future studies should be performed to better assess these relationships and possible treatment implications.

[Telemedicine and epilepsy: healthcare experience of a national reference center during the COVID-19 pandemic]. / Telemedicina y epilepsia: experiencia asistencial de un centro de referencia nacional durante la pandemia de COVID-19.

INTRODUCTION: Countries worldwide are having to cope with the COVID-19 pandemic caused by SARS-CoV-2. The burden on their national health systems is currently at unprecedented levels. Telemedicine care was initiated at an early stage in our centre. PATIENTS AND METHODS: We conducted a descriptive and retrospective study to evaluate the usefulness of telemedicine during lockdown in our centre. Patients included in the study had a clinical diagnosis of epilepsy, with two visits via telemedicine, who had been followed up for at least six months during the normal situation prior to the COVID-19 pandemic and two face-to-face consultations during the same period. RESULTS: A total of 115 patients were included. The average age was 29 years, 53% were males, 52.2% had focal epilepsy, 58.3% with a structural causation and 57.4% had difficult-to-treat epilepsy. The mean number of seizures prior to lockdown was 9.73/month and 6.54/month during lockdown. The number of patients who were seizure-free when lockdown ended was higher than that observed in the phase before it began: 54 versus 45 out of 115. CONCLUSIONS: Telemedicine is a very useful strategy for monitoring the course, progress and therapeutic changes in epileptic patients in the short and medium term. The reduction in the seizure frequency can be sustained in the medium term, not only in the short term as corroborated in previous studies. Telemedicine allows access to virtually all patients and closer monitoring.

TITLE: Telemedicina y epilepsia: experiencia asistencial de un centro de referencia nacional durante la pandemia de COVID-19.Introducción. El mundo entero está afrontando la pandemia por COVID-19 causada por el SARS-CoV-2. Los sistemas de salud nacionales están sometidos a niveles de sobrecarga sin precedentes. En nuestro centro se inició de forma temprana la asistencia a través de telemedicina. Pacientes y métodos. Es un estudio descriptivo y retrospectivo para evaluar la utilidad de la telemedicina durante el confinamiento en nuestro centro. Se incluyó a los pacientes con diagnóstico clínico de epilepsia, con dos asistencias a través de telemedicina, que tuvieran seguimiento durante al menos seis meses durante la situación de normalidad previa a la pandemia por COVID-19 y dos consultas presenciales durante ese mismo período. Resultados. Se incluyó a 115 pacientes. La media de edad fue de 29 años, el 53% fueron varones, el 52,2% con epilepsia focal, el 58,3% de etiología estructural y el 57,4% presentaba epilepsia de difícil control. La media de crisis preconfinamiento fue de 9,73/mes y de 6,54/mes durante el confinamiento. El número de pacientes libres de crisis fue mayor al final del confinamiento respecto a la fase preconfinamiento, 54 frente a 45/115. Conclusiones. La telemedicina es una estrategia de mucha utilidad en la monitorización de la evolución, el control evolutivo y los cambios terapéuticos en pacientes epilépticos a corto y medio plazo. La reducción de la frecuencia de crisis puede mantenerse a medio plazo, no sólo a corto plazo como se corroboró en estudios previos. La telemedicina permite acceder a prácticamente la totalidad de los pacientes y realizar un seguimiento más cercano.

Sociodemographic factors associated with the first administration of anti-seizure medication in patients with focal epilepsy in Western China.

BACKGROUND: Epilepsy is a severe chronic neurologic disease with a prevalence of 0.7% worldwide; anti-seizure medications (ASMs) are the mainstay of epilepsy treatment. The effects of sociodemographic factors on the characteristics of initial treatment in patients with newly diagnosed focal epilepsy in Western China are unknown. This study was conducted to explore sociodemographic factors associated with initial treatment characteristics. METHODS: Patients with focal epilepsy on continuous ASM treatment who visited to our epilepsy center at Sichuan Provincial People's Hospital between January 2018 and December 2019 were recruited. Data on initial treatment status and sociodemographic variables were obtained from the patients with a questionnaire designed by our researchers. We examined whether sociodemographic factors were associated with epileptic patients' access to neurologists and prescriptions of individual ASMs. RESULTS: A total of 569 patients completed this study. We found that patients with a higher education level, aged < 16 years, and with a higher household disposable income were more likely to receive treatment from a neurologist than their counterparts. Patients with a lower personal income level and who were treated at a junior hospital were more likely to receive prescriptions for carbamazepine, and those who were younger than 16 years were less likely to receive prescriptions for carbamazepine and oxcarbazepine. Patients with a higher education level, with a higher household disposable income level, who were younger than 16 years, and who were treated at a senior hospital were more likely to receive prescriptions for levetiracetam than their counterparts. Adult, female patients with focal epilepsy treated at a senior hospital were more likely to receive prescriptions for lamotrigine. CONCLUSIONS: This observation suggests that sociodemographic characteristics are associated with access to neurologists and prescriptions of individual antiepileptic drugs. These data may help public health officials establish guidelines for doctors and distribute resources according to the needs of different patient groups.

Adult occipital lobe epilepsy: 12-years on.

OBJECTIVE: Occipital lobe epilepsies (OLE) comprise 5-10% of focal epilepsies in surgical and paediatric series; with little data from adult medical cohorts. This longitudinal study examined OLE patients, to characterise prevalence, semiology, co-morbidity and prognosis in a neurology outpatient setting. METHODS: 24 adult OLE patients identified over 12 months from 1548 patients in a neurologist's service were followed over 12 years. RESULTS: 92% of these OLE patients had simple visual hallucinations, misdiagnosed in 40% of cases. 75% had co-morbid interictal migraine and 38% had visual field defects. Only 33% achieved long-term remission, and only 2 /10 (20%) of OLE patients with a structural aetiology were seizure-free. The two patients with migralepsy achieved remission. CONCLUSION: Adult OLE accounted for 7.7% of focal epilepsies in this cohort, misdiagnosed or misclassified in 40%. Most patients had co-existing migraine. A minority had migralepsy characterised by a longer aura and good prognosis. Remission rates were lower than that of childhood OLE and general adult epilepsy populations, strengthening the argument for considering epilepsy surgery in drug-resistant OLE patients with a structural cause. Precision medicine will potentially refine diagnosis and management in those OLE patients without an identified cause but is predicated on accurate clinical phenotyping.

Incidence and Prevalence of Drug-Resistant Epilepsy: A Systematic Review and Meta-analysis.

OBJECTIVE: To evaluate the incidence and prevalence of drug-resistant epilepsy (DRE) as well as its predictors and correlates, we conducted a systematic review and meta-analysis of observational studies. METHODS: Our protocol was registered with PROSPERO, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and Meta-analysis of Observational Studies in Epidemiology reporting standards were followed. We searched MEDLINE, Embase, and Web of Science. We used a double arcsine transformation and random-effects models to perform our meta-analyses. We performed random-effects meta-regressions using study-level data. RESULTS: Our search strategy identified 10,794 abstracts. Of these, 103 articles met our eligibility criteria. There was high interstudy heterogeneity and risk of bias. The cumulative incidence of DRE was 25.0% (95% confidence interval [CI]: 16.8-34.3) in child studies but 14.6% (95% CI: 8.8-21.6) in adult/mixed age studies. The prevalence of DRE was 13.7% (95% CI: 9.2-19.0) in population/community-based populations but 36.3% (95% CI: 30.4-42.4) in clinic-based cohorts. Meta-regression confirmed that the prevalence of DRE was higher in clinic-based populations and in focal epilepsy. Multiple predictors and correlates of DRE were identified. The most reported of these were having a neurologic deficit, an abnormal EEG, and symptomatic epilepsy. The most reported genetic predictors of DRE were polymorphisms of the ABCB1 gene. CONCLUSIONS: Our observations provide a basis for estimating the incidence and prevalence of DRE, which vary between populations. We identified numerous putative DRE predictors and correlates. These findings are important to plan epilepsy services, including epilepsy surgery, a crucial treatment option for people with disabling seizures and DRE.

Polygenic risk heterogeneity among focal epilepsies.

Focal epilepsy (FE) is clinically highly heterogeneous. It has been shown recently that not only rare but also a subset of common genetic variants confer risk for FE. The relatively modest power of genetic studies in FE suggests a high genetic heterogeneity of FE when grouped as one disorder. We hypothesize that the clinical heterogeneity of FE is correlated with genetic heterogeneity on a common risk variant level. To test the hypothesis, we used an FE polygenic risk score "FE-PRS" that combines small effect sizes of thousands of common variants from the largest FE-GWAS (genome-wide association study) into a single measure. We grouped 414 individuals with FE according to common clinical features into subgroups, either by one feature at a time or by all features combined in a cluster analysis. We examined their association with FE-PRS compared to 20 435 matched population controls and observed heterogeneous FE-PRS burden among the subgroups. The highest phenotypic variance explained by FE-PRS was identified in a cluster analysis-defined FE subgroup where all individuals had unknown etiologies and psychiatric comorbidities, and the majority had early onset seizures. Our results indicate that genetic factors associated with FE have differential burden among FE subtypes. Future studies using better-powered FE-PRS might have clinical utility.

Parasomnias, sleep-related movement disorders and physiological sleep variants in focal epilepsy: A polysomnographic study.

PURPOSE: The link existing between epilepsy and sleep is widely recognized. However, little is known about the prevalence and the clinical consequences of the comorbidity between focal epilepsy and sleep disorders, especially those sleep phenomena classified as isolated symptoms or normal variants. Objective of the study was to evaluate the frequency of sleep disorders and physiological sleep variants in a group of adult patients with focal epilepsy as compared to healthy controls by means of nocturnal polysomnography. METHODS: We performed a retrospective observational study in the Neurological Clinic of the University of Catania in adult patients with a diagnosis of focal epilepsy and in a group of control subjects. All subjects underwent an overnight polysomnography. The following sleep disorders were considered: NREM-related parasomnias; REM-related parasomnias; sleep-related movement disorders; isolated symptoms or normal variants. RESULTS: 100 patients [mean age 30.3 ±â€¯14.7 years, 40 men] and 62 controls [mean age 36.4 ±â€¯15.9, 20 men] were studied. A significant higher percentage of sleep disorders was recorded in patients as compared to controls (73 % vs 48.4 %; p = 0.002). In particular, we found a higher frequency of periodic limb movements (PLM) (20 % vs 4.8 %; p = 0.007), bruxism (20 % vs 4.8 %; p = 0.007) and neck myoclonus (22 % vs 4.8 %; p = 0.003). Moreover, alternating limb muscle activation was associated with sleep-related hypermotor epilepsy (OR = 7.9; p = 0.01). CONCLUSION: Sleep disorders and physiological sleep variants are common in adult patients with focal epilepsy.

Psychosis rarely occurs in patients with late-onset focal epilepsy.

AIMS: We examined psychosis occurrence in patients with late-onset focal epilepsy. SUBJECTS AND METHODS: Case records of consecutive patients with focal epilepsy without central nervous system (CNS) disease (n = 873) were retrospectively examined, with gender, age at epilepsy onset, duration of epilepsy, epilepsy type (temporal or extratemporal), and age at the initial examination used as clinical and demographic variables. Patients with onset ≤49 years old (control) were compared with those with late-onset. RESULTS: In the control group (n = 775), 38 had a history of psychosis, while none in the late-onset group (n = 98) reported that (p = 0.016). Psychosis was only interictal in 32 and predominantly postictal in 6, while 2 patients showed both interictal and postictal psychosis. Duration of illness (p = 0.000001) and temporal lobe epilepsy (p = 0.000343) were significant determinants associated with psychosis. Gender (p = 0.210) and age at examination (p = 0.084) were found to be not contributory to psychosis. DISCUSSION: The prevalence for a history of psychosis in the present cohort (2.5%) agrees well with that noted in previous studies, and duration of illness proved to be the most powerful determining factor leading to that. A keen awareness of unrecognized underlying CNS or metabolic disease is important when psychosis appears in patients with nonlesional late-onset epilepsy, which should lead to an in-depth investigation of possible underlying and still uncovered CNS disease.

Eslicarbazepine for focal epilepsy and acute intermittent porphyria.

Porphyrias are rare genetic disorders which cause a deficiency in the enzymes involved in the biosynthesis of heme. The treatment of epilepsy in patients with acute intermittent porphyria can be difficult since many anticonvulsants can increase heme synthesis and trigger porphyric attacks. We report a patient with focal epilepsy successfully treated with eslicarbazepine without exacerbation of porphyria.

Obstructive sleep apnea risk in patients with focal versus generalized epilepsy.

OBJECTIVE: Obstructive sleep apnea (OSA) is common in patients with epilepsy (PWE), and treatment may improve seizure control. However, OSA is often undiagnosed in PWE, and understanding of the risk profile for OSA is important. In this study, we sought to determine if OSA risk is similar in patients with generalized versus focal epilepsy. METHODS: We recruited 115 patients presenting to the Rutgers-Robert Wood Johnson Epilepsy Clinic with focal or generalized epilepsy. Obstructive sleep apnea risk was assessed using the Sleep Apnea Scale of the Sleep Disorders Questionnaire (SA-SDQ). Sleepiness was assessed using the Epworth Sleepiness Scale (ESS). Demographic and clinical information was gathered from the electronic medical record. Unadjusted and adjusted analyses were carried out to assess differences in the SA-SDQ between patients with generalized versus focal epilepsy. Further analyses were done to assess the relationship between seizure frequency, epilepsy type, and the SA-SDQ. RESULTS: Unadjusted mean SA-SDQ scores, as well as scores high enough to represent likely OSA, were similar in patients with generalized versus focal epilepsy. However, in adjusted analyses, patients with generalized epilepsy had a significantly higher mean SA-SDQ score. Older age, higher body mass index (BMI), and a history of hypertension (HTN) were also associated with higher SA-SDQ scores. Sleep Apnea Scale of the Sleep Disorders Questionnaire scores were not significantly affected by the presence of a seizure within the prior one month or six months. Average ESS scores and the percentage of scores consistent with an abnormal degree of sleepiness were statistically similar in patients with generalized versus focal epilepsy. SIGNIFICANCE: Our study suggests that patients with generalized epilepsy have a higher risk of OSA. Further studies measuring OSA directly as well as assessing potential benefits of treatment are needed.

Clinical characterization of status epilepticus in childhood: a retrospective study in 124 patients.

PURPOSE: The aim of this study is to describe demographic data, semiology and etiology in a pediatric population with status epilepticus (SE) and refractory SE (RSE). METHOD: We retrospectively reviewed patients with the following inclusion criteria: i) age between two months and eighteen years; ii) SE diagnosis; iii) admission from January 2001 to December 2016; iv) available clinical data. RESULTS: We enrolled 124 patients. Mean and median age was 4.6 ± 4.2 years and 3.3 [1.2-7.5] years respectively. SE had a "de novo" onset in 66.9%. Focal convulsive-SE was the most common semiology (50.8%) whilst generalised (32.3%) and nonconvulsive-SE (NCSE) (16.9%) were less represented. Some etiologies showed a different age distribution: febrile in youngest age (p = 0.002, phi 0.3) and idiopathic-cryptogenic in older children (p = 0.016, phi 0.2). A statistical significance correlation was detected between semiology and etiology (p < 0.001, Cramer's V 0.4), chemotherapy and NCSE (n = 6/21 vs 3/103, p < 0.001) as well as PRES and NCSE (n = 7/21 vs 5/103, p < 0.001). Only 17.7% had a RSE. No correlation was found in demographic and clinical data, but NCSE, acute and idiopathic-cryptogenic etiologies were more frequently associated to RSE. Encephalitis was the most common diagnosis in acute etiologies whereas unknown epilepsy in idiopathic-cryptogenic group. CONCLUSION: Most of our findings were previously described however we found a significant role of non-antiepileptic treatments (chemotherapy-dialysis) and comorbidity (PRES) determining acute etiology and NCSE. Acute (mostly encephalitis), idiopathic-cryptogenic (mainly unknown-epilepsy) and NCSE were frequently detected in RSE. In the above mentioned conditions a high level of suspicion was recommended.

Gelastic seizures: a retrospective study in five tertiary hospital centres.

This study aimed to characterize, clinically and neurophysiologically, a series of patients with gelastic seizures (GS), including both adults and children. We retrospectively collected patients with GS from epilepsy clinics of five tertiary hospital centres within a single country. Patients were selected through relatives'/caregivers' descriptions, home video and/or video-EEG monitoring. GS were identified through ictal semiology. Thirty-five patients were enrolled; 62.9% had initial GS in infancy, 14.3% in adolescence and 22.8% at adult age. Twenty-six had abnormal MRI: eight presented with hypothalamic hamartoma (HH) and 16 non-HH lesions that included different structural aetiologies and genetic, metabolic and immune aetiologies. All patients with HH had their first GS in infancy or adolescence. For the remaining aetiologies, GS started in infancy in 59.3%, in adolescence in 11.1% and at adult age in 29.6%. Video-EEG data was available for analysis in 11 patients, including seven patients with a non-HH MRI lesion. The ictal onset topography on scalp video-EEG was usually concordant with the MRI lesion (in 6/7 patients) and the most frequent ictal onset was fronto-temporal. In two patients, both video-EEG and MRI suggested a parietal and occipital epileptogenic zone. Aetiologies and patterns of affected topography unrelated to HH are common in patients with GS, and all age groups may manifest with this type of ictal semiology. This ictal manifestation has no lateralizing value and, despite a clear preponderance for hypothalamic, frontal and temporal lobe origins, other brain areas, namely the parietal and occipital lobes, should be considered.

Adaptive behavior and its related factors in children with focal epilepsy.

OBJECTIVE: We aimed to clarify the strengths and weaknesses in adaptive behavior in children with focal epilepsy and show children-associated factors related to adaptive behavior. MATERIALS AND METHODS: Sixty-three children with focal epilepsy aged 5-18 years with intellectual quotient (IQ) ranging from 67 to 135 were enrolled in this study. Adaptive behavior was evaluated using the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II). The children performed continuous performance test and tests of reading, writing, and IQ; parents answered questionnaires regarding attention-deficit hyperactivity disorder and autism spectrum disorder (ASD). Participants were categorized into four groups based on IQ and adaptive behavior scores for statistical comparisons. RESULTS AND DISCUSSION: Children with low adaptive behavior were more likely to show a reduction in daily living skills, and those with both low adaptive behavior and IQ were more likely to show a reduction in daily living skills and communication. Lower adaptive behavior was related to more severe autistic symptoms, lower academic achievement in children with IQ > 85, and lower executive function in children with IQ ≤ 85. There was a qualitative difference of cognitive dysfunction in adaptive behavior between both groups. CONCLUSIONS: There were differences in VABS-II domain and subdomain characteristics between children with focal epilepsy and those with ASD; however, it was more difficult for children with more severe ASD and coexisting focal epilepsy to show age-equivalent adaptive behavior.