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Sudden unexpected death in epilepsy (SUDEP) is a leading epilepsy‐related cause of death. Researchers have highlighted the similarities between SUDEP and sudden infant death syndrome (SIDS), but perinatal risk factors such as those identified for SIDS have not been assessed previously for SUDEP. We conducted a population‐based case‐control study of 58 SUDEP individuals and 384 living epilepsy controls born after 1982, utilizing the Swedish Medical Birth Register together with other national health registers and individual medical records to examine if prenatal and perinatal factors are associated with SUDEP risk. We observed a 3‐fold SUDEP risk increase for infants who were small for gestational age (SGA) (odds ratio [OR] 3.13; 95% confidence interval [CI] 1.05–9.30) and for those with an Apgar score of 0–6 compared to 9–10 at 10 min (OR 3.22; 95% CI 1.05–9.87). After adjusting for a number of known SUDEP risk factors, we observed that the Apgar score between 0 and 6 after 10 min had a 10‐fold increased risk for SUDEP OR 10.37 (95% CI 1.49–72.01) and over a 2‐fold risk for those born after the 40th gestational week (OR 2.42; 95% CI 1.03–5.65). The potential mechanisms linking low Apgar score, gestational age, and SGA to SUDEP risk remain to be explored. [ABSTRACT FROM AUTHOR]

Objective: Population‐based data on epilepsy syndromes and etiologies in early onset epilepsy are scarce. The use of next‐generation sequencing (NGS) has hitherto not been reported in this context. The aim of this study is to describe children with epilepsy onset before 2 years of age, and to explore to what degree whole exome and whole genome sequencing (WES/WGS) can help reveal a molecular genetic diagnosis. Methods: Children presenting with a first unprovoked epileptic seizure before age 2 years and registered in the Stockholm Incidence Registry of Epilepsy (SIRE) between September 1, 2001 and December 31, 2006, were retrieved and their medical records up to age 7 years reviewed. Children who met the epilepsy criteria were included in the study cohort. WES/WGS was offered in cases of suspected genetic etiology regardless of whether a structural or metabolic diagnosis had been established. Results: One hundred sixteen children were included, of which 88 had seizure onset during the first year of life and 28 during the second, corresponding to incidences of 139 and 42/100 000 person‐years, respectively. An epilepsy syndrome could be diagnosed in 54% of cases, corresponding to a birth prevalence of 1/1100. Structural etiology was revealed in 34% of cases, a genetic cause in 20%, and altogether etiology was known in 65% of children. The highest diagnostic yield was seen in magnetic resonance imaging (MRI) with 65% revealing an etiology. WES/WGS was performed in 26/116 cases (22%), with a diagnostic yield of 58%. Significance: Epilepsy syndromes can be diagnosed and etiologies revealed in a majority of early onset cases. NGS can identify a molecular diagnosis in a substantial number of children, and should be included in the work‐up, especially in cases of epileptic encephalopathy, cerebral malformation, or metabolic disease without molecular diagnosis. A genetic diagnosis is essential to genetic counselling, prenatal diagnostics, and precision therapy. [ABSTRACT FROM AUTHOR]

Summary: Prompted by a recent report on declining incidence of sudden unexpected death in epilepsy (SUDEP) following implantation of a vagus nerve stimulator (VNS), we analyzed SUDEP risk over 6 years in a population‐based cohort of 60 952 epilepsy patients in Sweden. All deaths from July 1, 2006 through December 31, 2011, were identified. Those with epilepsy mentioned on the death certificate were adjudicated for SUDEP using medical records and autopsy reports. In all, 292 SUDEP cases were identified. Comparing the first years (2006‐2007) with the subsequent 4 years (2008‐2011), the crude and standardized (to the US 2000 population) incidence of SUDEP (whether or not possible SUDEP was included) was significantly lower during the second time period; Incidence rate ratios based on standardized rates was estimated at 0.76 (95% confidence interval [CI] 0.60‐0.97, P = .027) for SUDEP. The incidence of SUDEP decreased by 7% per year during the 6‐year follow‐up. Our data thus suggest that, for unknown reasons, incidence of SUDEP decreases with duration of follow‐up. This has implications for patient counseling as well as for the design of studies attempting to assess the effectiveness of an intervention against SUDEP, which clearly needs to include a control group. [ABSTRACT FROM AUTHOR]

Summary: Objective: Given the increasing attention being paid to potential strategies for sudden unexpected death in epilepsy (SUDEP) prevention, we analyzed the circumstances of SUDEP and its incidence in relation to time of year, week, and day. Methods: Prospective case‐series based on persons with an International Classification of Diseases (ICD‐10) code for epilepsy in the Swedish Patient Registry 1998‐2005, who were alive on June 30, 2006 (n = 60 952). Linkage to the National Cause‐of‐Death Registry identified all deaths from July 2006 through December 2011, with epilepsy mentioned on death certificate, together with all deaths during 2008 (n = 3166). Death certificates, medical charts, autopsy, and police reports were reviewed to identify SUDEP cases and related circumstances. Autopsied non‐SUDEP deaths (n = 60) from the study population served as a reference. Results: There were 329 SUDEPs (63% men) of which 167 were definite, 89 probable, and 73 possible. SUDEP cases were younger at death (50.8 years) than non‐SUDEP deaths (73.3 years) (P < .001) and more likely to be male (63% vs 55%, P = .0079). Most SUDEP cases died at night (58%), at home (91%), and 65% were found dead in bed. When documented, 70% were found in prone position. In 17%, death was witnessed and in 88% of these, a seizure was observed. Of the 329 SUDEP cases, 71% were living alone and 14% shared a bedroom. Compared to an autopsied non‐SUDEP reference group, definite SUDEPs were more likely to die at home, during the night, unwitnessed, in the prone position, to live alone, and more often with a preceding seizure. Significance: SUDEP cases live alone, die unwitnessed at home at night, with indication of a preceding seizure, supporting the critical role of lack of supervision. These facts need to be considered in the development of preventive strategies. [ABSTRACT FROM AUTHOR]

Objective To quantify the risk of unprovoked seizures after traumatic brain injury ( TBI) Methods We used the Stockholm Incidence Registry on Epilepsy to carry out a population-based case-control study, including 1,885 cases with incident unprovoked seizures from September 1, 2000 through August 31, 2008, together with 15,080 matched controls. Information of prior hospitalizations for TBI was obtained through record linkage with the Swedish National Inpatient Registry for the period 1980-2008. Relative risks ( RRs) for unprovoked seizures were estimated after various TBI diagnoses, and influences of TBI severity and time since trauma were studied in detail. Results After hospitalization for mild TBI, the RR was 2.0 (95% confidence interval [ CI] 1.5-2.7). The RR was higher after brain contusion (5.9, 95% CI 2.4-15.0) or intracranial hemorrhage ( ICH) (4.5, 95% CI 2.2-9.0), whereas a combination of both diagnoses led to a further sevenfold increase in RR (42.6, 95% CI 12.2-148.5). The risk was greatest during the first 6 months after severe TBI ( RR 48.9, 95% CI 10.9-218.9) or mild TBI ( RR 8.1, 95% CI 3.1-21.7), but was still elevated >10 years after any TBI. Significance Herein we present a large population-based case-control study on TBI as a risk factor for unprovoked epileptic seizures, including cases of all ages with individually validated seizure diagnoses. The risk for epileptic seizures was substantially increased after TBI, especially during the first 6 months after the injury and in patients with a combination of ICH and brain contusion. [ABSTRACT FROM AUTHOR]