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@#Post-mortem microbiology (PMM) is an important tool in identifying possible causes of sudden unexpected death, as an infectious cause is highly suspected. However, contamination is a major problem in microbiology, and this has increased the difficulty determining the true pathogen that contributes to death in post-mortem cases. Skin commensals are common contaminants in blood cultures. This study was conducted to investigate the skin flora on early deceased bodies and observe the bacteria detected at different post-mortem intervals (PMIs). As blood is usually drawn from the neck and femoral sites for PMM examination, the two body sites were chosen as the sampling sites. Skin swab samples from the neck and femoral (n=80) of each early deceased body were collected by sterile cotton swabs. DNA was extracted from the swabs and then subjected to high-throughput 16S rRNA sequencing by using the Illumina MiSeq platform. Staphylococcus was found to be the most dominant genus in both neck and femoral sites. LEfSe results showed that Cutibacterium is significantly different at the neck site while Corynebacterium is more abundant at femoral site. There are significant differences at genus level between PMI<5H and PMI>5H at both neck and femoral sites. The findings of the present study may act as a reference for microbiologists and forensic pathologists when mixed growth or contamination occurs in post-mortem blood cultures.
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Epilepsy is a common disease in nervous system, of which patients often present with spontaneous unpredictable spontaneous seizures. Sudden unexpected death in epilepsy (SUDEP) is one of the most serious complications of epilepsy, and it is also the main cause of premature death of epileptic patients. Generalized tonic-clonic seizures, age and genetic factors are common risk factors of SUDEP. This article summarizes the classification of SUDEP and epidemiology, mechanism, risk factors, risk assessment and preventive methods of SUDEP to help physicians to understand the difference between SUDEP and sudden cardiac death.
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Sudden unexpected death in epilepsy(SUDEP)is the leading cause of accidental death in epileptic patients.The postictal generalized EEG suppression(PGES)is related to SUDEP.The age,seizure type,tonic seizure/tonic muscle contraction,ictal and post-ictal respiratory dysfunction and autonomic dysregulation is associated with PGES with significant individual variation.Progressive slowing of clonic phase(PSCP)in generalized tonic-clonic seizures(GTCS)is an independent predictor of the onset and prolongation of PGES.
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@#Objective To explore the clinical and electrophysiological characteristics of cardiac-respiratory dysfunction during the peri-epileptic seizure period.Methods A retrospective analysis was made from 12 000 patients with long-term video electroencephalograph (EEG)monitoring from October 2016 to April 2022 in the Department of Neurology,Xijing Hospital.Epilepsy patients with cardiac and respiratory dysfunction during peri- epileptic seizure period were enrolled,and their clinical and electrophysiological changes during the peri- epileptic seizure period were analyzed.Results Three patients experienced five seizures with cardiopulmonary dysfunctions during the EEG monitoring.Two of them were female and one was male,and their age was from 23 to 55 years old with epilepsy history of 9~40 years.One patient experienced sGTCS (secondly generalized tonic-clonic seizures) followed by generalized EEG suppression (PGES),during which respiratory movements disappeared for 74 s and the heart rate was as low as 25 bpm.One patient experienced ictal asytole lasting for 15 s during a seizure induced by flash stimulation;one patient experienced ictal asytole during two seizures,which lasted for 5 s and 3 s respectively.Follow-up time ranged from 6 months to 7 years,and all the three patients were seizure free.Conclusion Cardiopulmonary dysfunction occurs during PGES after seizures,and ictal asytole occurs during seizures,which maybe related with sudden unexpected death in epilepsy (SUDEP).
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OBJECTIVES@#To analyze the case, scene and forensic pathological characteristics of sudden unexpected death in epilepsy (SUDEP), to provide a practical basis for forensic identification.@*METHODS@#A total of 9 autopsy cases of SUDEP were collected. The basic information of the cases, the scene characteristics, the forensic pathological changes, the common drugs and antiepileptic drug test results, and pericardial fluid biochemical test results were analyzed.@*RESULTS@#All of the 9 cases were male epilepsy patients died during sleep at night, the age of death was (37.1±8.6) years, and the course of epilepsy was (21.3±5.6) years. Six corpses were in prone position and three in left lateral position. The hemorrhage of the sternocleidomastoid muscle, sternal thyroid muscle and sternohyoid muscle were found with 8 cases, 5 cases and 4 cases, respectively, all of them were unilateral. Six cases had bilateral hemorrhage of pectoralis minor muscle. Brain edema, phagocytosis of frontotemporal neurons and gliosis, cardiac fibers bend in wavy patterns and eosinophilic staining enhancement, pulmonary edema, pulmonary congestion, alveolar hemorrhage, pulmonary small bronchiole wall shrinking, tubular proteinuria and pancreatic parenchymal hemorrhage were the common histopathological changes. The biochemical test results of pericardial fluid indicated that there were myocardial ischemic damage.@*CONCLUSIONS@#Young male, early onset, long course of disease, sleep in the prone position, poor drug compliance or combination, epileptic seizure may be the risk factors of SUDEP. Cardiac dysfunction and respiratory depression might be the main death mechanism of SUDEP.
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Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Feminino , Morte Súbita Inesperada na Epilepsia , Morte Súbita/patologia , Epilepsia/complicações , Medicina Legal , Patologia LegalRESUMO
Introducción: Una muerte súbita en epilepsia (SUDEP) ocurre cada diez minutos en todo el mundo. El 30 por ciento de los pacientes epilépticos padecen de epilepsia fármaco resistente (EFR), no logran el control de sus crisis y esto aumenta el riesgo de SUDEP. Muchos aún desconocen los factores de riesgo SUDEP y cómo prevenirlos. Los tratamientos para evitarla aún son insuficientes. Las investigaciones enfermeras aportan resultados positivos en el manejo de la enfermedad. Objetivo: Revisar el estado sobre mortalidad, autogestión de epilepsia e investigaciones enfermeras para prevenir la SUDEP en adolescentes y adultos con EFR. Material y Métodos: Revisión sistemática y búsqueda bibliográfica en las bases de datos PubMed SciELO, SCOPUS, ElSEVIER, MEDES, Organización Panamericana de la Salud (OPS), INFOMED y Google académico. Los criterios de selección: trabajos de la última década en adolescentes y adultos publicados en Cuba y el mundo, enfatizando en las investigaciones enfermeras. Búsqueda de palabras claves en español e inglés, sin restricciones de idioma. Desarrollo: Entre los tratamientos para evitar la SUDEP, destacan los dispositivos de detección de crisis y programas de ayuda online, pero aún son necesarias nuevas opciones. En los factores de riesgo, destacan aquellos relacionados con el sueño. Otros factores de riesgo SUDEP pudieran ser modificables con programas educativos. A pesar de que aún se debaten las formas más adecuadas de ofrecer información sobre SUDEP, los programas educativos enfermeros han evidenciado mayor autogestión, conocimiento de la enfermedad y apego al tratamiento. Conclusiones: El enfermero es el potencial humano ideal, para implementar acciones de autocuidado en las personas con EFR, y empoderarlas con habilidades para el manejo de su enfermedad y prevención de SUDEP(AU)
Introduction: A sudden death in epilepsy (SUDEP) occurs every ten minutes worldwide. Also, 30 percent of epileptic patients who suffer from drug-resistant epilepsy (DRE) fail to control their seizures, so the risk of SUDEP increases. Many epileptic patients are unaware of the risk factors for SUDEP and the ways to prevent it. Treatments to avoid SUDEP are still insufficient. Nursing research provide positive results in the management of the disease. Objective: To review the mortality status, self-management of epilepsy and nursing research to prevent SUDEP in adolescents and adults with DRE. Material and Methods: A systematic review and bibliographic search was carried out in the PubMed SciELO, SCOPUS, ELSEVIER, MEDES, Pan American Health Organization (PAHO), INFOMED and Google Scholar databases. Selection criteria included studies on nursing research conducted in adolescents and adults during the last decade that have been published in Cuba and other countries of the world. Keywords in Spanish and English without language restrictions were used to carry out the search. Development: Crisis detection devices and online help programs stand out among the treatments to avoid SUDEP, but new options are still necessary. Among the risk factors for SUDEP, those related to sleep are highlighted. Other risk factors for SUDEP could be modified with educational programs. Despite the most appropriate ways of offering information about SUDEP are still debated, nursing educational programs have shown greater self-management, knowledge of the disease, and adherence to treatment. Conclusions: The Nurse is the ideal human potential to implement self-care actions in people with EFR. These actions aim to learn new skills for managing their disease and preventing SUDEP(AU)
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Humanos , Masculino , Feminino , Autocuidado , Pesquisa em Enfermagem , Conhecimento , Gerenciamento Clínico , Epilepsia/mortalidade , Morte Súbita Inesperada na Epilepsia/prevenção & controle , Enfermeiras e Enfermeiros , Fatores de RiscoRESUMO
Objective@#To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by KCNQ2 mutations and to provide a clue for the treatment and prognosis evaluation.@*Methods@#Twenty-two patients were collected in the Department of Pediatrics, Peking University First Hospital from April 2007 to July 2016.The phenotype-genotype analysis was conducted of the neonatal/infantile epileptic patients in whom a KCNQ2 mutation was identified by the targeted next generation sequencing.@*Results@#Twenty-two de novo KCNQ2 missense mutations from 22 patients with neonatal/infantile epileptic disorders were found.These patients had an onset of epilepsy in early infancy (median age: 2 days). The seizure type of the first onset was mainly focal seizure.Atypical absence epilepsy, a novel phenotype of KCNQ2 mutation-induced epilepsies was found.The mortality of these patients was high, as 5 patients of the 22 patients died in the follow-up period, 4 of which might result from sudden unexpected death in epilepsy.In the 22 patients, 8 patients with anti-epileptic monotherapy became seizure-free.Of the 8 patients with a monotherapy, 3 patients were treated with valproic acid and no clinical onset was observed.@*Conclusions@#This study expands the phenotype of KCNQ2-related epileptic disorders.These patients have high mortality.Valproate acid is the potentially effective monotherapy for these patients.
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Objective To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by KCNQ2 mutations and to provide a clue for the treatment and prognosis evaluation. Methods Twenty-two patients were collected in the Department of Pediatrics,Peking University First Hospital from April 2007 to July 2016. The phenotype-genotype analysis was conducted of the neonatal/infantile epileptic patients in whom a KCNQ2 muta﹣tion was identified by the targeted next generation sequencing. Results Twenty-two de noνo KCNQ2 missense muta﹣tions from 22 patients with neonatal/infantile epileptic disorders were found. These patients had an onset of epilepsy in early infancy(median age:2 days). The seizure type of the first onset was mainly focal seizure. Atypical absence epi﹣lepsy,a novel phenotype of KCNQ2 mutation-induced epilepsies was found. The mortality of these patients was high,as 5 patients of the 22 patients died in the follow-up period,4 of which might result from sudden unexpected death in epi﹣lepsy. In the 22 patients,8 patients with anti-epileptic monotherapy became seizure-free. Of the 8 patients with a monotherapy,3 patients were treated with valproic acid and no clinical onset was observed. Conclusions This study expands the phenotype of KCNQ2-related epileptic disorders. These patients have high mortality. Valproate acid is the potentially effective monotherapy for these patients.
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Mitochondrial fatty acid β-oxidation defects are series of underlying fatal diseases. The enzyme deficiencies caused by related gene mutations would lead to energy metabolic crisis and multi-organ damage. The clinical features of the patients are varied. The disease course ranged from acute to chronic,with mild to severe symptoms. Some previously healthy patients presented as sudden unexpected death due to acute cardiac death. With the development and the application of biochemical and genetic technologies in the metabolic autopsy,mitochondrial fatty acid β-oxidation disorders were recognized to be the genetic cause of sudden death. By expanded neonatal screening using tandem mass spectrometry,the patients could be detected at asymptomatic period or early stage of disease. Early intervention is the key to reduce the mortality and the disability.
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@#Sudden unexpected death in epilepsy (SUDEP) is a rare in children; the risk of SUDEP in children is up to 10-fold less than adults. Herein, we report a case of SUDEP in a 14-year-old boy. The post-mortem findings in neuropathological examination in SUDEP are not pathognomonic. Tongue and lip bites marks are only an indication of a seizure before death. Basically, there are no lesions that could explain the incidence of seizures before death. However, post-mortem examination is mandatory in order to determine the diagnosis of SUDEP. Autopsy, histopathological, and toxicologic examinations and a proper medical history of epilepsy are required to come to diagnosis of SUDEP. This case report further demonstrates the importance of medicolegal autopsy in allegedly dead victims.
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ConvulsõesRESUMO
Dravet syndrome (DS) is an epileptic (developmental) encephalopathy which onsets in infancy,most DS children are drug resistant.However,the emergence of new antiepileptic drugs is providing more options to treat DS.In the recent years,the efficacy of nonpharmacologic therapies (such as neurostimulation and ketogenic diet) had been also confirmed in DS.Now,the latest progress on clinical treatment of DS was elaborated.Besides that,the therapies on neuropsychological damages and how to prevent and deal with the status epilepticus and sudden unexpected death in children with DS were briefly introduced.
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El síndrome de muerte súbita del lactante (SMSL) consiste en la muerte inesperada de un infante menor de un año, la cual no puede ser explicada posterior a las investigaciones del caso, tales como: la anamnesis, la escena de la muerte, y la autopsia. La relevancia de este padecimiento radica en que es un fenómeno presente a nivel mundial, y es la principal causa de muerte en lactantes de 1 a 12 meses de vida. Debido a la importancia del tema, la presente investigación pretende realizar un acercamiento bibliográfico, que aborda terminología especializada; estudios de epidemiologia a nivel mundial; diversos factores de riesgo y su prevención; además del algoritmo de manejo de SMSL basado en las guías españolas de pediatría y las guías de SMSL de Massachusetts.Cabe destacar que el diagnóstico de esta muerte es de exclusión y requiere una investigación exhaustiva para poder dilucidar sus causas. Así mismo, el SMSL ha sido asociado a diferentes factores de riesgo que pueden desencadenar este evento en niños con susceptibilidad genética o adquirida, los cuales en la mayoría de los casos pueden modificarse y prevenirse educando a los padres, y a los proveedores de la salud. Debido a que el médico general, y el pediatra son los primeros profesionales en abordar al lactante y a sus familiares, es imperativo que ambos tengan conocimiento del tema en cuestión, no solo para la prevención de estos casos, sinopara el abordaje correcto en el caso que se presente una muerte súbita infantil.
Sudden Infant Death Syndrome (SIDS) is defined as the sudden death of an infant less than 1 year of age that cannot be explained after a thorough investigation is conducted, including the review of the clinical history, the examination of the death scene, and an autopsy. This condition is relevant because is a worldwide phenomenon, and it is the leading cause of death in infants between 1 to 12 months. Due to the importance of this subject, this research tries to make a bibliographic review that includes specialized terminology, worldwide epidemiology studies, risk factors, how to prevent it; and the approach, based on the Spanish and Massachusetts guidelines.The diagnosis of SIDS is based in the exclusion of causes, and requires a thorough investigation to elucidate them. Also, SIDS has been associated with different risk factors that can trigger this event in children with genetic or acquired susceptibility, which in most cases can be modified and prevented by educating the parents and the health care providers. Because the physician and the pediatrician are the first professionals to have contact with the infant and their families, it is imperative that both have knowledge of this subject, not only for the prevention of such cases, but for the correct approach in these cases.
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Humanos , Masculino , Feminino , Morte Súbita , LactenteRESUMO
The purpose of this study was to investigate the association between clinical variables and sudden unexpected death in epilepsy (SUDEP) and identify risk factors for SUDEP. SUDEP is one of the most frequent causes of death in patients with epilepsy. Previous studies have reported possible risk factors associated with SUDEP, but there need to be elucidated yet. The cases were 26 patients with SUDEP and three control patients were included for each case, matched for age, sex, and date of initial clinical visit. All demographic and clinical characteristics, including age, sex, disease duration, classification of epilepsy, age at seizure onset, kind and number of antiepileptic drugs, were compared between cases and controls. Seizure frequency was higher in SUDEP cases than in controls (P=0.035). Univariate analysis using conditional logistic regression showed that higher seizure frequency (odds ratio [OR]=3.1, P=0.021) and the number of antiepileptic drugs (AEDs) (OR=2.0, P=0.009) were significantly associated with SUDEP. Only the number of AEDs remained significant in multivariate analysis (OR=1.8, P=0.026). Frequent seizures and multi-drug therapy were associated with SUDEP. This may suggest that the severity of epilepsy is associated with SUDEP, regardless of the type of AED used.
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Adulto , Feminino , Humanos , Masculino , Adulto Jovem , Distribuição por Idade , Anticonvulsivantes/uso terapêutico , Morte Súbita/epidemiologia , Epilepsia/mortalidade , Incidência , Recidiva , República da Coreia/epidemiologia , Fatores de Risco , Distribuição por Sexo , Taxa de SobrevidaRESUMO
Mushroom poisoning widely reported in Oriental and Western literature, is typically caused by accidental ingestion of toxic mushrooms that resemble edible mushrooms. Reports about poisoning due to species of Omphalotus, Amanita, Clitocybe, and other toxic mushroom species have been reported; toxicity depends on the mushroom species and the amount of toxin, which varies according to the climatic and environmental conditions. Symptoms of poisoning, such as unspecific nausea, vomiting, and diarrhea, as well as intestinal, hepatic and renal toxicities, also vary according to the mushroom species. Most patients recover with anti-muscarinic therapy and supportive care for nonspecific symptoms; however some cases of poisoning are fatal in children and elderly people. We report a case of sudden death due to mushroom poisoning in a 74-year-old woman, with hemorrhagic enteritis.
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Idoso , Criança , Feminino , Humanos , Agaricales , Amanita , Morte Súbita , Diarreia , Ingestão de Alimentos , Enterite , Intoxicação Alimentar por Cogumelos , Náusea , Intoxicação , VômitoRESUMO
El SUDEP se refiere a la muerte súbita e inesperada con o sin testigos, no traumática, y no por ahogamientos en un paciente epiléptico, con o sin evidencia de que haya sufrido una crisis epiléptica al morir, en el que se haya descartado un estado convulsivo como causa de muerte y en el que la autopsia no proporcione evidencia alguna de una causa anatómica o tóxica de la muerte. Aunque SUDEP ha sido reconocida desde el siglo XIX, sólo en las últimas dos décadas se le ha dado la importancia que ¨¦sta requiere. La frecuencia de SUDEP depende de la severidad de la epilepsia pero en general el riesgo de muerte súbita es de 20 veces mayor que el de la población en general. El edema pulmonar neurógeno, la apnea central y la arritmia cardiaca, inducidos por una descarga Á-adrenérgica de origen central, constituyen los tres mecanismos fisiopatogínicos más estrechamente relacionados con la SUDEP. Por lo anterior obliga al clínico a realizar una minuciosa autopsia la cual deber¨ªa incluir un examen neuropatol¨®gico que documente los cambios cerebrales que subyacen a la epilepsia, toxicología y el examen del corazón, los pulmones y otros órganos.
The SUDEP refers to the sudden and unexpected death with or without witnesses, non-traumatic, and not drowning in an epileptic patient, with or without evidence that he suffered a seizure at death, in which a state is ruled seizure as the cause of death in the autopsy did not provide evidence of a toxic or anatomic cause of death. Although SUDEP has been recognized since the nineteenth century, only in the last two decades has been given the importance it requires. SUDEP frequency depends on the severity of epilepsy but in general the risk of sudden death is 20 times higher than the general population. Neurogenic pulmonary edema, central apnea and cardiac arrhythmias induced by ¦Á-adrenergic shock of central origin, pathophysiologic mechanisms are the three most closely related to SUDEP. Therefore forcing the clinician to perform a thorough autopsy, which should include neuropathological examination to document brain changes that underlie epilepsy, toxicology and examination of the heart, lungs and other organs.
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Humanos , Masculino , Feminino , Arritmias Cardíacas , Morte Súbita , EpilepsiaRESUMO
Meningiomas, one of the most common neoplasms of the central nervous system, may be encountered incidentally during autopsy. Most of these tumors, however, are benign and hence, are not considered as the chief cause of death. Further, sudden unexpected death caused by meningioma is very unusual. Moreover, the diagnosis of an incidental meningioma as the cause of sudden death may sometimes be difficult. In the present report, we describe an autopsy case of a sudden, unexpected death due to a large olfactory groove meningioma accompanied by severe cerebral edema and tonsillar herniation.
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Autopsia , Edema Encefálico , Neoplasias Encefálicas , Causas de Morte , Sistema Nervoso Central , Morte Súbita , Diagnóstico , Encefalocele , MeningiomaRESUMO
Hepatocellular carcinoma (HCC) is one of the leading causes of death in Korea. Chronic hepatitis, alcoholic liver disease and liver cirrhosis are predisposing factor of HCC. Bleeding tendency and hemorrhage resulting from reduced production of coagulation factors or portal hypertension are not uncommon in HCC, moreover spontaneous hemoperitoneum also can occur. Spontaneous hemoperitoneum is a complication of HCC, that is caused by the rupture of HCC mass which abuts on the hepatic capsule. However hemoperitoneum also occurs due to the rupture of vasculature of the mass. Emergency laparotomy is the recommended treatment, however these patients exhibit poor prognosis because of hemodynamic instability followed by combined liver disease. Herein, we report a case of spontaneous hemoperitoneum due to the rupture of subcapsular vessels with invasion of HCC in a 39-years-old man, whose tumor was left undetected.
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Humanos , Fatores de Coagulação Sanguínea , Carcinoma Hepatocelular , Causas de Morte , Emergências , Hemodinâmica , Hemoperitônio , Hemorragia , Hepatite Crônica , Hipertensão Portal , Coreia (Geográfico) , Laparotomia , Cirrose Hepática , Hepatopatias , Hepatopatias Alcoólicas , Prognóstico , RupturaRESUMO
El SUDEP se refiere a la muerte súbita e inesperada con o sin testigos, no traumática, y no por ahogamientos en un paciente epiléptico, con o sin evidencia de que haya sufrido una crisis epiléptica al morir, en el que se haya descartado un estado convulsivo como causa de muerte y en el que la autopsia no proporcione evidencia alguna de una causa anatómica o tóxica de la muerte. Aunque SUDEP ha sido reconocido desde el siglo XIX, solo en las últimas dos décadas se le ha dado la importancia que ésta requiere. La frecuencia de SUDEP depende de la severidad de la epilepsia pero en general el riesgo de muerte súbita es de 20 veces mayor que el de la población en general. El edema pulmonar neurógeno, la apnea central y la arritmia cardiaca, inducidos por una descarga a-adrenérgica de origen central, constituyen los tres mecanismos fisiopatogénicos más estrechamente relacionados con la SUDEP. Por lo anterior obliga al clínico a realizar una minuciosa autopsia la cual debería incluir un examen neuropatológico que documente los cambios cerebrales que subyacen a la epilepsia, toxicología y el examen del corazón, los pulmones y otros órganos...
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Humanos , Anticonvulsivantes , Epilepsia , Morte Súbita/etiologia , Morte Súbita/patologia , Costa RicaRESUMO
Epilepsy is one of the most common neurologic problems worldwide. Unfortunately, individuals with epilepsy are at higher risk of death than the general population, and sudden unexpected death in epilepsy is the most important direct epilepsy-related cause of death. In this review article, our research group focused on the risk factors, mechanisms and preventative measures obtained from clinical and experimental studies on sudden unexpected death in epilepsy.