A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome

ConclusionsThis is the largest cohort of Dravet patients from within the US to report medication response with respect to genotype. Missense variants in SCN1A were most common in the voltage sensor and pore domains. All patients were most likely to respond to the recommended medication triad compared to other antiepileptic therapies.
Source: Seizure - Category: Neurology Source Type: research

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ConclusionTo the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40%, and have a significant impact on the quality of life and neurodevelopment of patients.
Source: Seizure - Category: Neurology Source Type: research
The objective of this study was to assess factors associated with research participation among epilepsy clinic patients who screened positive for anxiety or depression. This was accomplished by characterizing clinical and psychiatric factors among patients seen in an epilepsy clinic and evaluating which factors were associated with consent for potential research participation, via a combined clinical and research screening model.MethodsIn a pragmatic trial of anxiety and depression treatment in epilepsy, individuals with a positive screen for anxiety and/or depression at a routine epilepsy clinic visit were invited to opt-...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
The objective of the study was to validate the parent-proxy reported Quality of Life in Childhood Epilepsy Questionnaire (QOLCE) in a sample of young adults with a history of childhood-onset epilepsy, allowing for the utilization of a consistent informant (the parent) across the youths' stages of development. The 55-item (QOLCE-55) and 16-item versions (QOLCE-16) were evaluated.MethodsData came from 134 young adults (aged 18.0 to 28.5 years) with childhood-onset epilepsy, recruited through community and tertiary care centers across Canada. Confirmatory factor analysis (CFA) was used to assess the higher-order factor stru...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
ConclusionsThe impression of and beliefs about epilepsy among the general population as well as among PWE were the primary factors affecting stigma. Thus, there is a need for the provision of accurate information about epilepsy to both these groups. Additional studies on epilepsy-associated stigma employing various methodological approaches are required.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
In conclusion, the current study shed light on the potential neuroprotective role of metformin and trimetazidine in the amelioration of cognitive function via hindering inflammatory processes in diabetic epileptic rats.Graphical abstractDiagram illustrating alterations in the hippocampus induced in diabetic epileptic rats. DAP, death-associated protein; ATP/ADP, ratio of adenosine triphosphate and adenosine diphosphate; mTOR, mammalian target of rapamycin; Casp-3, caspase-3; TNF-α, tumor necrosis factor-α; IL-1β, interleukin-1β; NF-κB, nuclear factor-κB; IGF-1, insulin growth factor 1.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Two lines on a home pregnancy test, a flickering heartbeat on ultrasound, and suddenly your world has changed: you’re pregnant! Regardless of where this new path takes you, you may start to examine your daily decisions in a new way as you discover an intense drive to protect the growing baby inside you. Even your exercise routines may come under scrutiny, particularly if late-night Googling has you second-guessing everything that you believed you knew. Just how safe is exercise during pregnancy? The short answer? Exercise during pregnancy is not only safe, it’s encouraged. An overriding principle for pregnancy ...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Health Source Type: blogs
ConclusionsACT-709478 exhibits good tolerability up to 100  mg once daily using an up-titration regimen and pharmacokinetic properties that support further clinical investigations. A weak induction of gastrointestinal cytochrome P450 3A4 activity was observed, unlikely to be of clinical relevance.ClinicalTrials.gov IdentifierNCT03165097.
Source: CNS Drugs - Category: Neurology Source Type: research
SummaryObjectivePatients with seizures or status epilepticus (SE) access the hospital through emergency departments and may be admitted into different wards according to the level of care required. Clinicians with different expertise are in charge of taking critical therapeutic decisions. To date, very few studies have investigated the stage at which these patients are referred to neurologists or epileptologists and how guideline recommendations are applied in clinical practice.MethodsA survey was used to investigate how patients with epileptic seizures or SE are managed in emergency and in subsequent hospital pathways in ...
Source: Neurological Sciences - Category: Neurology Source Type: research
ConclusionConsidering that epilepsy is common in school ‐age, the study results suggest the need to train teachers with respect to epilepsy to change misconceptions about epilepsy and to promote positive attitudes toward epileptic people to avoid the rejection of these people by the society responsible for problems of social integration.
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research
OBJECTIVE: In the general population, injury related to seizures often involves falls, head trauma, soft tissue injuries, burns and fractures. Additionally, postictal deleterious behavior changes can by experienced by patients. We seek to identify the risk...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Egress, Escape, Evacuation, Crowds Source Type: news
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