Premature Mortality in Epilepsy —A Reminder for the Untreated Millions—Reply

In Reply We thank Singh et al for their comments on our article demonstrating the benefits of specialist neurology and comprehensive epilepsy care on mortality in patients with epilepsy. We agree that evidence-based care should be driven by data. In a global environment of accelerating health care costs, the same methods should be used to demonstrate value for money. However, it may be unsurprising that bespoke care improves outcomes; particularly pertinent for countries offering universal health coverage, the unequivocal demonstration of benefit is an indispensable prerequisite for advocates of the judicious use of finite health care resources. Our study clearly demonstrates said value as referral to a comprehensive epilepsy program (hazard ratio, 0.49; 95% CI, 0.38-0.62) robustly reduces premature mortality, a problem that contributes to epilepsy existing as the third most common neurological cause of years lived with disability in the world.
Source: JAMA Neurology - Category: Neurology Source Type: research

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Epilepsy and autism frequently co-occur. Epilepsy confers an increased risk of autism and autism confers an increased risk of epilepsy. Specific epilepsy syndromes, intellectual disability, and female gender present a particular risk of autism in individuals with epilepsy. Epilepsy and autism are likely to share common etiologies, which predispose individuals to either or both conditions. Genetic factors, metabolic disorders, mitochondrial disorders, and immune dysfunction all can be implicated.
Source: Child and Adolescent Psychiatric Clinics of North America - Category: Psychiatry Authors: Source Type: research
Pre-eclampsia was associated with a slightly increased risk of epilepsy, autism and other neurodevelopmental problems in offspring.
Source: NYT Health - Category: Consumer Health News Authors: Tags: Preeclampsia Pregnancy and Childbirth Autism Epilepsy Ears and Hearing Intellectual Disabilities Source Type: news
The abnormal allocation of nodules of grey matter in areas of the brain or spinal cord that should physiologically be occupied by white matter characterizes a neural defect called Grey Matter Heterotopia (GMH). The improvement of MRI techniques has enabled a deeper understanding of the neuropathological bases and epidemiology of such a condition. Among its major manifestations, there is the onset of epileptic seizures, mild intellectual disability, impairments in executive functioning, neurodevelopmental disorders; less frequently GMH has been found associated with depression, anxiety, and schizophrenia. Despite the clinic...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Authors: Uysal SP, Sahin M Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of mo...
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Discussion Memory is an important part of what distinguishes higher order species from others. Memory also is part of one’s self-identity. Difficulties in short-term memory can make common, everyday tasks difficult for the person experiencing the problem particularly if it recently occurred and the person’s long-term memory is intact. Difficulties with long-term memory can also have problems when language, events or even one’s own identity are affected. For some people the memory loss is temporary but for others, memory impairments are permanent and must be accepted and accommodated as part of the overall...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. In one individual, a homozygous variant in one of the double-stranded RNA-binding domains (dsRBDs) was identified. In the others, variants were situated in or around the deaminase domain.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Abstract Critical care long-term continuous electroencephalogram (cEEG) monitoring has expanded dramatically in the last several decades spurned by technological advances in EEG digitalization and several key clinical findings: 1-Seizures are relatively common in the critically ill-large recent observational studies suggest that around 20% of critically ill patients placed on cEEG have seizures. 2-The majority (~75%) of patients who have seizures have exclusively "electrographic seizures", that is, they have no overt ictal clinical signs. Along with the discovery of the unexpectedly high incidence of sei...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
CONCLUSIONS: Teachers of the study were concerned about not knowing what to do in an emergency event in a schoolchild with chronic illness. Although some had received information about the medication to be administered, they were not sure if they would be able to do so. The training and self-confidence of teachers should be improved in order to cope with possible critical situations in schoolchildren with chronic diseases. PMID: 32205056 [PubMed - as supplied by publisher]
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
CONCLUSIONS: Children and adolescents with surgically treated epilepsy reach a good seizure outcome, stabilize in intellectual and adaptive functions, and have an increase in QOL, from the caregiver's perspective. Nevertheless, their burden remains unchanged. Seizure outcome is the main factor for improvement in the QOL. The upgrading of structured questionnaires and QOL instruments specific to pediatric epilepsy can be helpful to assess patient- and caregiver-reported surgical outcomes, allowing for better planning of therapeutic approaches. PMID: 32199346 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
by Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J. Obermair, Maja Hempel, Bernhard E. Flucher, Kerstin Kutsche P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. β4 is encoded byCACNB4, and its multiple splice variants serve isoform-specific functions as channel subunits and transcriptional regulators in the nucleus. In two siblings with intellectual disability, psychomotor re...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
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