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JAMA Oncology Mar 2022The Global Burden of Diseases, Injuries, and Risk Factors Study 2019 (GBD 2019) provided systematic estimates of incidence, morbidity, and mortality to inform local and...
Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life Years for 29 Cancer Groups From 2010 to 2019: A Systematic Analysis for the Global Burden of Disease Study 2019.
IMPORTANCE
The Global Burden of Diseases, Injuries, and Risk Factors Study 2019 (GBD 2019) provided systematic estimates of incidence, morbidity, and mortality to inform local and international efforts toward reducing cancer burden.
OBJECTIVE
To estimate cancer burden and trends globally for 204 countries and territories and by Sociodemographic Index (SDI) quintiles from 2010 to 2019.
EVIDENCE REVIEW
The GBD 2019 estimation methods were used to describe cancer incidence, mortality, years lived with disability, years of life lost, and disability-adjusted life years (DALYs) in 2019 and over the past decade. Estimates are also provided by quintiles of the SDI, a composite measure of educational attainment, income per capita, and total fertility rate for those younger than 25 years. Estimates include 95% uncertainty intervals (UIs).
FINDINGS
In 2019, there were an estimated 23.6 million (95% UI, 22.2-24.9 million) new cancer cases (17.2 million when excluding nonmelanoma skin cancer) and 10.0 million (95% UI, 9.36-10.6 million) cancer deaths globally, with an estimated 250 million (235-264 million) DALYs due to cancer. Since 2010, these represented a 26.3% (95% UI, 20.3%-32.3%) increase in new cases, a 20.9% (95% UI, 14.2%-27.6%) increase in deaths, and a 16.0% (95% UI, 9.3%-22.8%) increase in DALYs. Among 22 groups of diseases and injuries in the GBD 2019 study, cancer was second only to cardiovascular diseases for the number of deaths, years of life lost, and DALYs globally in 2019. Cancer burden differed across SDI quintiles. The proportion of years lived with disability that contributed to DALYs increased with SDI, ranging from 1.4% (1.1%-1.8%) in the low SDI quintile to 5.7% (4.2%-7.1%) in the high SDI quintile. While the high SDI quintile had the highest number of new cases in 2019, the middle SDI quintile had the highest number of cancer deaths and DALYs. From 2010 to 2019, the largest percentage increase in the numbers of cases and deaths occurred in the low and low-middle SDI quintiles.
CONCLUSIONS AND RELEVANCE
The results of this systematic analysis suggest that the global burden of cancer is substantial and growing, with burden differing by SDI. These results provide comprehensive and comparable estimates that can potentially inform efforts toward equitable cancer control around the world.
Topics: Disability-Adjusted Life Years; Global Burden of Disease; Global Health; Humans; Incidence; Neoplasms; Prevalence; Quality-Adjusted Life Years; Risk Factors
PubMed: 34967848
DOI: 10.1001/jamaoncol.2021.6987 -
BMJ (Clinical Research Ed.) Mar 2023To systematically review and perform a meta-analysis of radiation associated risks of cardiovascular disease in all groups exposed to radiation with individual radiation... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To systematically review and perform a meta-analysis of radiation associated risks of cardiovascular disease in all groups exposed to radiation with individual radiation dose estimates.
DESIGN
Systematic review and meta-analysis.
MAIN OUTCOME MEASURES
Excess relative risk per unit dose (Gy), estimated by restricted maximum likelihood methods.
DATA SOURCES
PubMed and Medline, Embase, Scopus, Web of Science Core collection databases.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
Databases were searched on 6 October 2022, with no limits on date of publication or language. Animal studies and studies without an abstract were excluded.
RESULTS
The meta-analysis yielded 93 relevant studies. Relative risk per Gy increased for all cardiovascular disease (excess relative risk per Gy of 0.11 (95% confidence interval 0.08 to 0.14)) and for the four major subtypes of cardiovascular disease (ischaemic heart disease, other heart disease, cerebrovascular disease, all other cardiovascular disease). However, interstudy heterogeneity was noted (P<0.05 for all endpoints except for other heart disease), possibly resulting from interstudy variation in unmeasured confounders or effect modifiers, which is markedly reduced if attention is restricted to higher quality studies or those at moderate doses (<0.5 Gy) or low dose rates (<5 mGy/h). For ischaemic heart disease and all cardiovascular disease, risks were larger per unit dose for lower dose (inverse dose effect) and for fractionated exposures (inverse dose fractionation effect). Population based excess absolute risks are estimated for a number of national populations (Canada, England and Wales, France, Germany, Japan, USA) and range from 2.33% per Gy (95% confidence interval 1.69% to 2.98%) for England and Wales to 3.66% per Gy (2.65% to 4.68%) for Germany, largely reflecting the underlying rates of cardiovascular disease mortality in these populations. Estimated risk of mortality from cardiovascular disease are generally dominated by cerebrovascular disease (around 0.94-1.26% per Gy), with the next largest contribution from ischaemic heart disease (around 0.30-1.20% per Gy).
CONCLUSIONS
Results provide evidence supporting a causal association between radiation exposure and cardiovascular disease at high dose, and to a lesser extent at low dose, with some indications of differences in risk between acute and chronic exposures, which require further investigation. The observed heterogeneity complicates a causal interpretation of these findings, although this heterogeneity is much reduced if only higher quality studies or those at moderate doses or low dose rates are considered. Studies are needed to assess in more detail modifications of radiation effect by lifestyle and medical risk factors.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO CRD42020202036.
Topics: Humans; Cardiovascular Diseases; Myocardial Ischemia; Risk Factors; France; Radiation, Ionizing; Coronary Artery Disease
PubMed: 36889791
DOI: 10.1136/bmj-2022-072924 -
Medicine Oct 2018Plantar fasciitis is one of the most common causes of adult heel pain. The aim of this study is to comprehensively compare the effectiveness of various therapies for... (Meta-Analysis)
Meta-Analysis Review
Comparative effectiveness of extracorporeal shock wave, ultrasound, low-level laser therapy, noninvasive interactive neurostimulation, and pulsed radiofrequency treatment for treating plantar fasciitis: A systematic review and network meta-analysis.
BACKGROUND
Plantar fasciitis is one of the most common causes of adult heel pain. The aim of this study is to comprehensively compare the effectiveness of various therapies for plantar fasciitis using network meta-analysis.
METHODS
Studies were comprehensively searched on Embase, MEDLINE via PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), and the Physiotherapy Evidence Database (PEDro) up to December 4, 2017. Randomized controlled trials that used extracorporeal shock wave therapy, ultrasound, ultrasound-guided pulsed radiofrequency treatment (UG-PRF), intracorporeal pneumatic shock therapy (IPST), low-level laser therapy (LLLT), and noninvasive interactive neurostimulation (NIN) for the treatment of plantar fasciitis were included. The primary outcome is change in pain relief. Risk of bias was assessed using the Cochrane risk of bias tool. Quality assessment was performed using the GRADE system.
RESULTS
Nineteen trials with 1676 patients with plantar fasciitis plantar fasciitis were included. In the pair-wise meta-analysis, radial extracorporeal shock wave therapy (RSW), LLLT, and IPST showed a significant pooled reduction in the visual analogue scale (VAS) compared with placebo at 0 to 6 weeks [mean difference (MD) = 6.60, 95% confidence interval (CI): (6.04, -7.16); MD = 2.34, 95% CI: (1.60, 3.08); MD = 2.24, 95% CI: (1.44, 3.04), respectively]. Compared with placebo, UG-PRF [MD = 2.31, 95% CI: (1.26, 3.36)] and high-intensity focused extracorporeal shock wave (H-FSW) [MD = 0.82, 95% CI: (0.20, 1.45)] showed superior pain-relieving effects at 2 to 4 months; UG-PRF [MD = 1.11, 95% CI: (0.07, 2.15)] and IPST [MD = 4.92, 95% CI: (4.11, 5.73)] showed superior effects at 6 to 12 months. In the network meta-analysis, only RSW induced significant pain reduction compared with placebo at 0 to 6 weeks [MD = 3.67, 95% CI: (0.31, 6.9)]. No significant differences were found for the 2 to 4-month and 6 to 12-month periods because of the wide 95% CIs.
CONCLUSIONS
We recommend treating plantar fasciitis with RSW. The commonly used ultrasound and focused extracorporeal shock wave (FSW) therapies can be considered as alternative treatment candidates. IPST, NIN, and LLLT may potentially be better alternatives, although their superiority should be confirmed by additional comprehensive evidence.PROSPERO registration number: PROSPERO (CRD42015017353).
Topics: Electric Stimulation; Fasciitis, Plantar; Humans; Low-Level Light Therapy; Network Meta-Analysis; Pain Management; Pain Measurement; Pulsed Radiofrequency Treatment; Ultrasonic Therapy
PubMed: 30412072
DOI: 10.1097/MD.0000000000012819 -
Annals of the Rheumatic Diseases May 2018To develop evidence-based recommendations for the use of imaging modalities in primary large vessel vasculitis (LVV) including giant cell arteritis (GCA) and Takayasu...
To develop evidence-based recommendations for the use of imaging modalities in primary large vessel vasculitis (LVV) including giant cell arteritis (GCA) and Takayasu arteritis (TAK). European League Against Rheumatism (EULAR) standardised operating procedures were followed. A systematic literature review was conducted to retrieve data on the role of imaging modalities including ultrasound, MRI, CT and [F]-fluorodeoxyglucose positron emission tomography (PET) in LVV. Based on evidence and expert opinion, the task force consisting of 20 physicians, healthcare professionals and patients from 10 EULAR countries developed recommendations, with consensus obtained through voting. The final level of agreement was voted anonymously. A total of 12 recommendations have been formulated. The task force recommends an early imaging test in patients with suspected LVV, with ultrasound and MRI being the first choices in GCA and TAK, respectively. CT or PET may be used alternatively. In case the diagnosis is still in question after clinical examination and imaging, additional investigations including temporal artery biopsy and/or additional imaging are required. In patients with a suspected flare, imaging might help to better assess disease activity. The frequency and choice of imaging modalities for long-term monitoring of structural damage remains an individual decision; close monitoring for aortic aneurysms should be conducted in patients at risk for this complication. All imaging should be performed by a trained specialist using appropriate operational procedures and settings. These are the first EULAR recommendations providing up-to-date guidance for the role of imaging in the diagnosis and monitoring of patients with (suspected) LVV.
Topics: Europe; Fluorodeoxyglucose F18; Giant Cell Arteritis; Humans; Magnetic Resonance Imaging; Positron-Emission Tomography; Radiopharmaceuticals; Rheumatology; Takayasu Arteritis; Tomography, X-Ray Computed; Ultrasonography; Vasculitis
PubMed: 29358285
DOI: 10.1136/annrheumdis-2017-212649 -
JMIR Cancer Nov 2021Chatbot is a timely topic applied in various fields, including medicine and health care, for human-like knowledge transfer and communication. Machine learning, a subset... (Review)
Review
BACKGROUND
Chatbot is a timely topic applied in various fields, including medicine and health care, for human-like knowledge transfer and communication. Machine learning, a subset of artificial intelligence, has been proven particularly applicable in health care, with the ability for complex dialog management and conversational flexibility.
OBJECTIVE
This review article aims to report on the recent advances and current trends in chatbot technology in medicine. A brief historical overview, along with the developmental progress and design characteristics, is first introduced. The focus will be on cancer therapy, with in-depth discussions and examples of diagnosis, treatment, monitoring, patient support, workflow efficiency, and health promotion. In addition, this paper will explore the limitations and areas of concern, highlighting ethical, moral, security, technical, and regulatory standards and evaluation issues to explain the hesitancy in implementation.
METHODS
A search of the literature published in the past 20 years was conducted using the IEEE Xplore, PubMed, Web of Science, Scopus, and OVID databases. The screening of chatbots was guided by the open-access Botlist directory for health care components and further divided according to the following criteria: diagnosis, treatment, monitoring, support, workflow, and health promotion.
RESULTS
Even after addressing these issues and establishing the safety or efficacy of chatbots, human elements in health care will not be replaceable. Therefore, chatbots have the potential to be integrated into clinical practice by working alongside health practitioners to reduce costs, refine workflow efficiencies, and improve patient outcomes. Other applications in pandemic support, global health, and education are yet to be fully explored.
CONCLUSIONS
Further research and interdisciplinary collaboration could advance this technology to dramatically improve the quality of care for patients, rebalance the workload for clinicians, and revolutionize the practice of medicine.
PubMed: 34847056
DOI: 10.2196/27850 -
Reviews in Cardiovascular Medicine Feb 2022The present study aimed to analyze the effects of exercise-based cardiac rehabilitation (CR) on physical performance after myocardial revascularization. In addition, we... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The present study aimed to analyze the effects of exercise-based cardiac rehabilitation (CR) on physical performance after myocardial revascularization. In addition, we compared the type and duration of exercise-based CR protocols to determine which ones produced the best performance improvements.
METHODS
This systematic review and meta-analysis was conducted and reported in accordance with PRISMA statement. A systematic search of PubMed, Web of Science, SPORTDiscus and ProQuest, was performed in July 2020. Studies that met the following criteria were included: (i) participants submitted to myocardial revascularization (i.e., coronary artery bypass grafting (CABG) and percutaneous coronary intervention (PCI)), (ii) participants submitted to exercise-based CR, and (iii) participants submitted to protocols for assessing physical performance before and after the exercise-based CR.
RESULTS
Thirteen and eleven studies evaluating the effects of exercise-based CR after myocardial revascularization were included in the systematic review and meta-analysis, respectively. Exercise-based CR increased physical performance after myocardial revascularization (mean effect size (ES) 0.75; 95% confidence interval (CI) 0.62, 0.88), particularly when aerobic (ES 0.85; 95% CI 0.68, 1.01) and combined training (ES 1.04; 95% CI 0.70, 1.38) lasting 8-12 weeks (ES 1.20; 95% CI 0.87, 1.53) was prescribed.
CONCLUSIONS
The present systematic review and meta-analysis indicates that exercise-based CR increases physical performance after myocardial revascularization. The prescription of physical training for these patients should emphasize aerobic and combined training lasting at least 8-12 weeks, which is more effective in improving physical performance.
IMPACT
Our findings demonstrate the effectiveness of physical training in improving physical performance after myocardial revascularization.
Topics: Cardiac Rehabilitation; Exercise; Exercise Therapy; Humans; Myocardial Revascularization; Percutaneous Coronary Intervention
PubMed: 35229565
DOI: 10.31083/j.rcm2302074 -
BMJ (Clinical Research Ed.) Apr 2016To examine the traditional diet-heart hypothesis through recovery and analysis of previously unpublished data from the Minnesota Coronary Experiment (MCE) and to put... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To examine the traditional diet-heart hypothesis through recovery and analysis of previously unpublished data from the Minnesota Coronary Experiment (MCE) and to put findings in the context of existing diet-heart randomized controlled trials through a systematic review and meta-analysis.
DESIGN
The MCE (1968-73) is a double blind randomized controlled trial designed to test whether replacement of saturated fat with vegetable oil rich in linoleic acid reduces coronary heart disease and death by lowering serum cholesterol. Recovered MCE unpublished documents and raw data were analyzed according to hypotheses prespecified by original investigators. Further, a systematic review and meta-analyses of randomized controlled trials that lowered serum cholesterol by providing vegetable oil rich in linoleic acid in place of saturated fat without confounding by concomitant interventions was conducted.
SETTING
One nursing home and six state mental hospitals in Minnesota, United States.
PARTICIPANTS
Unpublished documents with completed analyses for the randomized cohort of 9423 women and men aged 20-97; longitudinal data on serum cholesterol for the 2355 participants exposed to the study diets for a year or more; 149 completed autopsy files.
INTERVENTIONS
Serum cholesterol lowering diet that replaced saturated fat with linoleic acid (from corn oil and corn oil polyunsaturated margarine). Control diet was high in saturated fat from animal fats, common margarines, and shortenings.
MAIN OUTCOME MEASURES
Death from all causes; association between changes in serum cholesterol and death; and coronary atherosclerosis and myocardial infarcts detected at autopsy.
RESULTS
The intervention group had significant reduction in serum cholesterol compared with controls (mean change from baseline -13.8%v-1.0%; P<0.001). Kaplan Meier graphs showed no mortality benefit for the intervention group in the full randomized cohort or for any prespecified subgroup. There was a 22% higher risk of death for each 30 mg/dL (0.78 mmol/L) reduction in serum cholesterol in covariate adjusted Cox regression models (hazard ratio 1.22, 95% confidence interval 1.14 to 1.32; P<0.001). There was no evidence of benefit in the intervention group for coronary atherosclerosis or myocardial infarcts. Systematic review identified five randomized controlled trials for inclusion (n=10,808). In meta-analyses, these cholesterol lowering interventions showed no evidence of benefit on mortality from coronary heart disease (1.13, 0.83 to 1.54) or all cause mortality (1.07, 0.90 to 1.27).
CONCLUSIONS
Available evidence from randomized controlled trials shows that replacement of saturated fat in the diet with linoleic acid effectively lowers serum cholesterol but does not support the hypothesis that this translates to a lower risk of death from coronary heart disease or all causes. Findings from the Minnesota Coronary Experiment add to growing evidence that incomplete publication has contributed to overestimation of the benefits of replacing saturated fat with vegetable oils rich in linoleic acid.
Topics: Adult; Aged; Aged, 80 and over; Cause of Death; Cholesterol; Coronary Artery Disease; Coronary Disease; Diet, Fat-Restricted; Dietary Fats; Double-Blind Method; Female; History, 20th Century; Humans; Kaplan-Meier Estimate; Linoleic Acid; Male; Middle Aged; Minnesota; Myocardial Infarction; Plant Oils; Randomized Controlled Trials as Topic; Risk Factors; Young Adult
PubMed: 27071971
DOI: 10.1136/bmj.i1246 -
Tremor and Other Hyperkinetic Movements... 2023The objective of this review is to provide updated information on the epidemiology, correlating factors and treatment of chronic kidney disease associated restless legs... (Review)
Review
OBJECTIVES
The objective of this review is to provide updated information on the epidemiology, correlating factors and treatment of chronic kidney disease associated restless legs syndrome (CKD-A-RLS) in both adult and pediatric population.
MATERIALS AND METHODS
We have reviewed the Medline search and Google Scholar search up to May 2022, using key words restless legs syndrome, chronic kidney disease and hemodialysis and kidney transplant. The reviewed articles were studied for epidemiology, correlating factors, as well as pharmacologic and non-pharmacologic treatment options.
RESULTS
Our search revealed 175 articles, 111 were clinical trials or cross- sectional studies and 64 were review articles. All 111 articles were retrieved and studied in detail. Of these, 105 focused on adults and 6 on children. A majority of studies on dialysis patients reported a prevalence between 15-30%, which is notably higher than prevalence of RLS in general population (5-10%). The correlation between presence of CKD-A-RLS with age, gender, abnormalities of hemogram, iron, ferritin, serum lipids, electrolytes and parathyroid hormones were also reviewed. The results were inconsistent and controversial. Limited studies have reported on the treatment of CKD-A-RLS. Non-pharmacological treatment focused on the effect(s) of exercise, acupuncture, massage with different oils and infra-red light whereas, pharmacologic treatment options include the effects of dopaminergic drugs, Alpha2-Delta ligands (gabapentin and pregabalin), vitamins E and C, and intravenous iron infusion.
CONCLUSION
This updated review showed that RLS is two to three times more common in patients with CKD compared to the general population. More patients with CKD-A-RLS demonstrated increased mortality, increased incidence of cardiovascular accident, depression, insomnia and impaired quality of life than those with CKD without RLS. Dopaminergic drugs such as levodopa, ropinirole, pramipexole and rotigotine as well as calcium channel blockers (gabapentin and pregabalin) are helpful for treatment of RLS. High quality studies with these agents are currently underway and hopefully confirm the efficacy and practicality of using these drugs in CKD-A-RLS. Some studies have shown that aerobic exercise and massage with lavender oil can improve symptoms of CKD-A- RLS suggesting that these measures can be useful as adjunct therapy.
Topics: Humans; Child; Gabapentin; Restless Legs Syndrome; Pregabalin; Quality of Life; Dopamine Agents; Renal Insufficiency, Chronic; Iron
PubMed: 37008995
DOI: 10.5334/tohm.752 -
World Neurosurgery: X Apr 2023This review was designed to update our earlier systematic review which evaluated both published and unpublished evidence on the incidence of traumatic spinal cord injury... (Review)
Review
OBJECTIVES
This review was designed to update our earlier systematic review which evaluated both published and unpublished evidence on the incidence of traumatic spinal cord injury (TSCI) worldwide.
METHODS
We used various search methods including strategic searching, reference checking, searching for grey literature, contacting registries, authors, and organizations requesting unpublished data, browsing related websites, and hand searching key journals. The quality of included studies was evaluated by Joanna Briggs Institute Critical Appraisal Tools. Records published between April 2013 and May 2020 were added to the original systematic review.
RESULTS
Overall, 58 resources including 45 papers, 10 SCI registry reports, 1 book, and 2 theses were retrieved. We found TSCI incidence data for eight new countries, which overall shapes our knowledge of TSCI incidence for 49 countries. The incidence of TSCI ranges from 3.3 to 195.4 cases per million (cpm) based on subnational studies and from 5.1 to 150.48 cpm based on national studies. Most of the studies were low quality, lacked consistent case selection due to unclear definition of TSCI and unclear ascertainment methods.
CONCLUSIONS
There is an increasing number of publications in the literature focusing on the epidemiologic data of TSCI. The absence of a standard form of reporting TSCI hinders the comparability of data across different data sources. Use of various definitions for TSCI may lead to heterogeneity in reports. Use of sensitivity analyses based on reasonable classification criteria can aid in offering a uniform set of case identification and ascertainment criteria for TSCI.
PubMed: 36910686
DOI: 10.1016/j.wnsx.2023.100171 -
Brain : a Journal of Neurology Dec 2022Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies,...
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral neuropathies and cardiac arrhythmias. Disease-associated variants have diverse functional effects ranging from complete loss-of-function to marked gain-of-function. Therapeutic strategy is likely to depend on functional effect. Experimental studies offer important insights into channel function but are resource intensive and only performed in a minority of cases. Given the evolutionarily conserved nature of the sodium channel genes, we investigated whether similarities in biophysical properties between different voltage-gated sodium channels can predict function and inform precision treatment across sodium channelopathies. We performed a systematic literature search identifying functionally assessed variants in any of the nine voltage-gated sodium channel genes until 28 April 2021. We included missense variants that had been electrophysiologically characterized in mammalian cells in whole-cell patch-clamp recordings. We performed an alignment of linear protein sequences of all sodium channel genes and correlated variants by their overall functional effect on biophysical properties. Of 951 identified records, 437 sodium channel-variants met our inclusion criteria and were reviewed for functional properties. Of these, 141 variants were epilepsy-associated (SCN1/2/3/8A), 79 had a neuromuscular phenotype (SCN4/9/10/11A), 149 were associated with a cardiac phenotype (SCN5/10A) and 68 (16%) were considered benign. We detected 38 missense variant pairs with an identical disease-associated variant in a different sodium channel gene. Thirty-five out of 38 of those pairs resulted in similar functional consequences, indicating up to 92% biophysical agreement between corresponding sodium channel variants (odds ratio = 11.3; 95% confidence interval = 2.8 to 66.9; P < 0.001). Pathogenic missense variants were clustered in specific functional domains, whereas population variants were significantly more frequent across non-conserved domains (odds ratio = 18.6; 95% confidence interval = 10.9-34.4; P < 0.001). Pore-loop regions were frequently associated with loss-of-function variants, whereas inactivation sites were associated with gain-of-function (odds ratio = 42.1, 95% confidence interval = 14.5-122.4; P < 0.001), whilst variants occurring in voltage-sensing regions comprised a range of gain- and loss-of-function effects. Our findings suggest that biophysical characterisation of variants in one SCN-gene can predict channel function across different SCN-genes where experimental data are not available. The collected data represent the first gain- versus loss-of-function topological map of SCN proteins indicating shared patterns of biophysical effects aiding variant analysis and guiding precision therapy. We integrated our findings into a free online webtool to facilitate functional sodium channel gene variant interpretation (http://SCN-viewer.broadinstitute.org).
Topics: Animals; Channelopathies; Peripheral Nervous System Diseases; Voltage-Gated Sodium Channels; Epilepsy; Phenotype; Mammals
PubMed: 35037686
DOI: 10.1093/brain/awac006