A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy
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Objective:To discuss the relationship between cerebrovascular disease (CVD) and its secondary epilepsy. Methods:66 cases of cerebrovascular disease with epilepsy were summarized and analysed.Results:Among the patients,there were 43 cases of early epilepsy,23 cases of late epilepsy.Most lesion location existed in the cerebral lobe(47/66).Most of them showed overall onset of epilepsy;however,after medication,having better therapeutic effects.Conclusion:Cerebrovascular disease is one of the main causes in secondary epilepsy.Most patients with early epilepsy needn't take antiepileptic drugs for a long time, but patients with late epilepsy have to.The death rate of the patients with cerebrovascular disease in acute epilepsy onset group are higher than that in non-epilepsy group,and sustaining status of epilepticus shows that patient's condition was serious and had poor prognosis.
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A compensatory mutation occurs when the fitness loss caused by one mutation is remedied by its epistatic interaction with a second mutation at a different site in the genome. This poorly understood biological phenomenon has important implications, not only for the evolutionary consequences of mutation, but also for the genetic complexity of adaptation. We have carried out the first direct experimental measurement of the average rate of compensatory mutation. An arbitrary selection of 21 missense substitutions with deleterious effects on fitness was introduced by site-directed mutagenesis into the bacteriophage phiX174. For each deleterious mutation, we evolved 8-16 replicate populations to determine the frequency at which a compensatory mutation, instead of the back mutation, was acquired to recover fitness. The overall frequency of compensatory mutation was approximately 70%. Deleterious mutations that were more severe were significantly more likely to be compensated for. Furthermore, experimental reversion of deleterious mutations revealed that compensatory mutations have deleterious effects in a wild-type background. A large diversity of intragenic compensatory mutations was identified from sequencing fitness-recovering genotypes. Subsequent analyses of intragenic mutation diversity revealed a significant degree of clustering around the deleterious mutation in the linear sequence and also within folded protein structures. Moreover, a likelihood analysis of mutation diversity predicts that, on average, a deleterious mutation can be compensated by about nine different intragenic compensatory mutations. We estimate that about half of all compensatory mutations are located extragenically in this organism.
Mutation Accumulation
Reversion
Epistasis
Mutation frequency
Suppressor mutation
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People with epilepsy suffer from a considerable lack of physical activity. In addition, an important problem of epilepsy management is the lack of qualified professionals. In this study we present data from a survey which aimed to assess physical educators' general knowledge about epilepsy. One hundred and thirty four physical educators of both sexes answered a questionnaire. Sixty percent of the professionals believe that a seizure is an abnormal electrical discharge of the brain, 13% that epilepsy is a cerebral chronic disease that can not be cured or controlled, 84% that people having convulsions will not necessarily present epilepsy and 5% that people with epilepsy have difficulties of learning. Questions concerned previous professional experience with epilepsy showed that 61% have seen a seizure and 53% have access to some information about epilepsy. Thus, 28% of professionals have a friend or relative with epilepsy, 14% have a student with epilepsy, and 29% helped someone during seizures. Our findings reveal a lack of physical educators' appropriate knowledge about epilepsy. Improvement of this might contribute to the improvement of epilepsy care/management.
Health Professionals
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On the basis of the prospective study, concerning 100 children of mothers with epilepsy, observed in the first decade, it was established that epilepsy appeared more often in this period than it was reported in the retrospective studies. The frequency of epilepsy amounted 7%. The pregnant-perinatal negative factors in mothers whose children suffered from epilepsy, weren't essentially larger than in other mothers with epilepsy. The occurrence of epilepsy in mothers till 10 year's of age increases the risk of early appearance of epilepsy in offspring essentially (p < 0.05). The epilepsy with absence seizures in mothers is related to the increased number of children with epilepsy in the first decade significantly more often than the epilepsy only with generalized tonic-clonic seizures (p < 0.012). Among the children with epilepsy, there were cases with the same type as in mothers epilepsy (absence), and with other generalized idiopathic epileptic syndromes (West syndrome, Dose syndrome, epilepsy with tonic-clinic seizures). The course of epilepsy in offspring of mothers with epilepsy was typical for the relevant epileptic syndroms appearing in childhood.
Epilepsy syndromes
Epilepsy in children
Generalized epilepsy
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Importance
Prevention of new-onset epilepsy is an important public health issue and presents a pressing unmet need. It is unclear whether progress has been made in preventing new-onset epilepsy.Objective
To determine whether progress has been made in the prevention of epilepsy in Finland during the last 40 years.Design, Setting, and Participants
Using a long-term national register study of 5.04 million Finnish individuals, we looked at first-time inpatient admissions in Finland for a diagnosis of epilepsy from 1973 to 2013. Patients with epilepsy were defined by the occurrence of 2 or more unprovoked seizures. This study was conducted on July 29, 2015.Main Outcomes and Measures
In Finland, patients with epilepsy are routinely hospitalized at time of diagnosis, thus providing evidence for the incidence of epilepsy.Results
Of the mean 5.04 million Finnish individuals followed up for the development of epilepsy from 1973 to 2013, 100 792 people were identified as having epilepsy. Of these, 46 995 (47%) had focal epilepsy. The mean age for those included in the study was 45 years for men (interquartile range, 24-65 years) and 46 years for women (interquartile range, 23-71 years). We found no change in the incidence of epilepsy in the age range of those younger than 65 years (60 per 100 000 in 1973 and 64 per 100 000 in 2013). However, there was a significant increase in epilepsy among those older than 65 years (from 57 per 100 000 to 217 per 100 000).Conclusions and Relevance
We found no evidence that progress has been made in preventing new-onset epilepsy in those younger than 65 years in the last 40 years; in fact, there was a nearly 5-fold rise of new-onset epilepsy among the elderly population.Interquartile range
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Nonsynonymous substitution
Pseudogene
Synonymous substitution
Silent mutation
Nonsense mutation
Neutral mutation
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Generalized epilepsy
Epilepsy in children
Etiology
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Abstract Anyone can develop epilepsy, and about one in a hundred people does. This makes epilepsy as common as diabetes or rheumatoid arthritis. However, people talk much less about epilepsy than about these other conditions. This picture shows 120 people. If they were typical of the whole population, one or two should have epilepsy. Most people with epilepsy would lead a normal life if only people without epilepsy would let them. Unfortunately, many are prejudiced about epilepsy. This book is for people with epilepsy and for people who live or work with them. It is written to inform people about epilepsy. It is meant to explain the causes and treatment of epilepsy. It is meant to be understood by everyone. Other medical conditions, tuberculosis for instance, particularly affect poor people. There are also diseases that are more common in rich people. Epilepsy affects rich and poor alike. A person can develop epilepsy when he or she is a baby, a young adult, or in older age.
Affect
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Etiology
Cross-sectional study
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PART ONE 1. What is epilepsy? 2. The physical causes and emotional triggers of epilepsy 3. How epilepsy is diagnosed - or should be 4. So, if it isn't epilepsy, what is it? 5. The risks of seizures 6. The management of epilepsy 7. The drugs in use: Pros and cons 8. Other treatments, other problems PART TWO - BEING A WOMAN, HAVING EPILEPSY 9. Being a woman - having epilepsy 10. Epilepsy and sexuality 11. Contraception, epilepsy and epilepsy treatment 12. Epilepsy and fertility 13. Pre-conception counselling 14. Pregnancy 15. Labour, birth and the immediate aftermath 16. Childcare 17. The premenopause, the perimenopause, and the menopause 18. The older woman 19. Being a woman, having epilepsy: Harriet's story Appendix 1 Drugs for epilepsy Appendix 2 Where else to find help and information
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