{"title":"Outcome Measures for <i>COL6</i> and <i>LAMA2</i>-Related Dystrophies.","authors":"Abigail N Schwaede, Nancy L Kuntz","doi":"10.15844/pedneurbriefs-34-15","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-15","url":null,"abstract":"<p><p>Investigators from the NIH performed a longitudinal, prospective, natural history study looking at patients with <i>COL6</i>-related dystrophies (<i>COL6</i>-RDs) and <i>LAMA2</i>-related dystrophies (<i>LAMA2</i>-RDs), the two most common congenital muscular dystrophies (CMDs).</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"15"},"PeriodicalIF":0.0,"publicationDate":"2020-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38709735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Wearable EEG Device for Continuous Spike-Wave in Sleep.","authors":"Hirokazu Oguni","doi":"10.15844/pedneurbriefs-34-10","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-10","url":null,"abstract":"<p><p>Investigators from the Hospital Dona Estefânia, Escola Superior de Tecnologias e Saúde de Lisboa and Centro Hospitalar Psiquiátrico de Lisboa investigated 38 patients with continuous spike-wave of sleep (CSWS) syndrome.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"10"},"PeriodicalIF":0.0,"publicationDate":"2020-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38678520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic Diagnosis of Cockayne Syndrome.","authors":"Rifali Patel","doi":"10.15844/pedneurbriefs-34-9","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-9","url":null,"abstract":"<p><p>Researchers from the University of Strasbourg investigated whether defective transcription of ATF3 responsive genes is a marker for Cockayne Syndrome (CS).</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"9"},"PeriodicalIF":0.0,"publicationDate":"2020-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38341663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Epilepsy and TSC-Associated Neuropsychiatric Disorders.","authors":"Jamie K Capal","doi":"10.15844/pedneurbriefs-34-11","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-11","url":null,"abstract":"<p><p>Investigators from multiple institutions (Cleveland Clinic, University Hospital Leuven, ZOL Genk, Kempenhaeghe and Maastricht UMC+, and Children's Hospitals and Clinics of Minnesota) used the Tuberous Sclerosis Complex Natural History Database (TSCNHD) to evaluate the relationship between epilepsy and neuropsychiatric disorders in individuals with TSC, along with any potential influence of genotype.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"11"},"PeriodicalIF":0.0,"publicationDate":"2020-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38678521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fenfluramine: New Treatment for Seizures in Dravet Syndrome.","authors":"Joanna Garcia Pierce, Divakar S Mithal","doi":"10.15844/pedneurbriefs-34-8","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-8","url":null,"abstract":"<p><p>Investigators for the FAiRE DS Study Group assessed the efficacy and safety of Fenfluramine for treating seizures in patients less than 18 y.o. with Dravet Syndrome in an international double-blind, placebo-controlled clinical trial. A total of 119 patients (mean age 9.0 y, 54% male) were enrolled in the study.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"8"},"PeriodicalIF":0.0,"publicationDate":"2020-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37752016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Double Pathology in Rasmussen Encephalitis.","authors":"Iga A Fudyma, Nitin R Wadhwani","doi":"10.15844/pedneurbriefs-34-7","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-7","url":null,"abstract":"<p><p>Investigators from Children's Hospital Colorado and University of Colorado conducted a retrospective review of electronic medical records to identify all Rasmussen Encephalitis (RE) cases that had undergone surgery with subsequent pathologic evaluation at Children's Hospital Colorado during 2005-2019 to determine the frequency of double pathology.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"7"},"PeriodicalIF":0.0,"publicationDate":"2020-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37744537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Stereo-EEG in Tuberous Sclerosis Complex.","authors":"Jun T Park, Guadalupe Fernandez-Baca Vaca","doi":"10.15844/pedneurbriefs-34-6","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-6","url":null,"abstract":"<p><p>A collaborative research team lead by an investigator from the Lyon Neuroscience Research Center and Lyon University Hospital and Lyon 1 University studied epileptogenicity of tuber and its surrounding cortex using stereoelectroencephalography (SEEG) in patients diagnosed with tuberous sclerosis complex (TSC) (genetic or clinical).</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"6"},"PeriodicalIF":0.0,"publicationDate":"2020-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37740122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ketogenic Diet: A Role in Immunity?","authors":"Andrea C Pardo","doi":"10.15844/pedneurbriefs-34-5","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-5","url":null,"abstract":"<p><p>Investigators from The Department of Comparative Medicine, from Yale School of Medicine report the effect of the ketogenic diet on the T cell immune function in mice exposed to influenza virus.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"5"},"PeriodicalIF":0.0,"publicationDate":"2020-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.15844/pedneurbriefs-34-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37740120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Utility of Repetitive Nerve Stimulation in Myopathies.","authors":"Abigail Schwaede, Amber N Buehner, Vamshi K Rao","doi":"10.15844/pedneurbriefs-34-4","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-4","url":null,"abstract":"<p><p>Investigators from the Mayo Clinic, Rochester, MN, evaluated 157 patients with confirmed myopathy who had electrodiagnostic studies done between January 2007 and May 2017.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"4"},"PeriodicalIF":0.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37740117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Stroke in the Adolescent Population.","authors":"Ethan J Rosenberg, Jonathan E Kurz","doi":"10.15844/pedneurbriefs-34-3","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-34-3","url":null,"abstract":"<p><p>Investigators from 10 French academic centers studied a retrospective cohort of 60 patients aged 10-18 years (mean age 15.2 years) presenting with first-time stroke, as identified from discharge ICD-10 codes.</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"3"},"PeriodicalIF":0.0,"publicationDate":"2020-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37687073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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