Researchers Pinpoint Genetic Cause Of Sturge-Weber Syndrome And Port-Wine Stain Birthmarks

In new findings published in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause - a genetic mutation that occurs before birth - of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Genetics Source Type: news

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Condition:   Sturge-Weber Syndrome Intervention:   Drug: Cannabidiol Sponsors:   Anne Comi, MD;   GW Pharmaceuticals Ltd.;   Faneca 66 Foundation Recruiting
Source: - Category: Research Source Type: clinical trials
CONCLUSIONS: Headache is common in children with SWS, often without classical migraine features and affects daily activities. Awareness of headache and its associations in SWS may improve management of this complex population. PMID: 32561288 [PubMed - as supplied by publisher]
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
AbstractThis review updates the radiologist on current epilepsy surgery practice in children, with a specific focus on the role of imaging in pre-surgical work-up, current and novel surgical techniques, expected post-surgical imaging appearances and important post-operative complications. A comprehensive review of the current and emerging international practices in paediatric epilepsy surgical planning and post-operative imaging is provided with details on case-based radiological findings. A detailed discussion of the pathophysiology and imaging features of different epileptogenic lesions will not be discussed as this is n...
Source: Neuroradiology - Category: Radiology Source Type: research
Ramesh S Doddamani, Manjari Tripathi, Raghu Samala, Mohit Agarwal, Bhargavi Ramanujan, Sarat P ChandraNeurology India 2020 68(2):270-273 The posterior quadratic epilepsy (PQE) is a form of a multilobar epilepsy, involving the temporal-parietal and occipital lobes. Basically, epilepsies with localized networks to the posterior temporal, posterior parietal, and occipital lobes can benefit from this type of surgery. Gliosis due to perinatal insult and cortical dysplasis and angiomas in Sturge Weber syndrome involving the PQ have often been cited in the literature as the etiology for PQE. However, before considering surgery, ...
Source: Neurology India - Category: Neurology Authors: Source Type: research
Children with forehead port-wine stains (PWS) are at risk of Sturge-Weber Syndrome (SWS). However, most will not develop neurologic manifestations.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research
Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes. PMID: 32233696 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
CONCLUSIONS: Patients with malformations of cortical development have a higher risk of seizure recurrence, and these malformations comprised the main etiology in the reoperation series. Failure of an initial hemispherotomy usually occurs due to incomplete disconnection and needs to be extensively assessed. Outcomes of reoperation are most often favorable, with acceptable complication rates. PMID: 32234979 [PubMed - in process]
Source: Neurosurgical Focus - Category: Neurosurgery Authors: Tags: Neurosurg Focus Source Type: research
CONCLUSION: Our results supported the potential of AATs using A1R agonist to be a novel therapy for reducing life burden from patients with refractory epilepsy in SWS, with application to epileptic generation region but not propagation region. PMID: 32208337 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with SWS are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), frequency of suicidal ideation and attempts in youth and adults with SWS is unknown.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Research Paper Source Type: research
;sz C PMID: 32107105 [PubMed - as supplied by publisher]
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
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