{"title":"Genetic Testing Requires NGS and Sanger Methodologies","authors":"L. Jennings, D. Kirschmann","doi":"10.15844/pedneurbriefs-30-9-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-9-1","url":null,"abstract":"Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"36 - 36"},"PeriodicalIF":0.0,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.15844/pedneurbriefs-30-9-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67165576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Arnold-Chiari with Myelomeningocele","authors":"J. Millichap","doi":"10.15844/PEDNEURBRIEFS-1-4-9","DOIUrl":"https://doi.org/10.15844/PEDNEURBRIEFS-1-4-9","url":null,"abstract":"The outcome of 19 infants with complications of Arnold-Chiari malformation and meningomyelocele was reviewed at the Depts.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"1 1","pages":"28"},"PeriodicalIF":0.0,"publicationDate":"2016-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67124800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Risk of Remote Seizures After Perinatal Ischemic Stroke","authors":"David G. Ritacco","doi":"10.15844/pedneurbriefs-30-8-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-8-1","url":null,"abstract":"Investigators from the University of California San Francisco and Kaiser Permanente Medical Centers in Oakland report outcome of perinatal arterial ischemic stroke (PAIS) in a population-based cohort, with particular attention to the incidence of seizures.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"34 - 34"},"PeriodicalIF":0.0,"publicationDate":"2016-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67165558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Tuberous Sclerosis Complex: A Roadmap for Future Research","authors":"A. Jeong","doi":"10.15844/pedneurbriefs-30-7-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-7-1","url":null,"abstract":"Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"32 - 32"},"PeriodicalIF":0.0,"publicationDate":"2016-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67165462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"ADHD, Methylphenidate, and Childhood Epilepsy","authors":"Rahul Sharma, S. Plioplys","doi":"10.15844/pedneurbriefs-30-6-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-6-1","url":null,"abstract":"Investigators from the Department of Functional Neurology, Epileptology and Epilepsy Institute (IDEE), and the Lyon’s University Hospital examined the clinical determinants of ADHD severity in children with epilepsy (CWE) along with the response to treatment with methylphenidate (MPH).","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"30 - 30"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67164841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Phenotypes of Dravet Syndrome","authors":"R. García-Sosa, L. Laux","doi":"10.15844/pedneurbriefs-30-5-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-5-1","url":null,"abstract":"Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"28 - 28"},"PeriodicalIF":0.0,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67164821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"ADHD as Sequel to Acute Disseminated Encephalomyelitis.","authors":"Millichap Jg","doi":"10.15844/PEDNEURBRIEFS-30-2-6","DOIUrl":"https://doi.org/10.15844/PEDNEURBRIEFS-30-2-6","url":null,"abstract":"Investigators from Ruth Children's Hospital, Haifa, and Schneider Medical Center, Petah Tikuah, Israel, evaluated the long-term motor and neurocognitive outcome of 43 children hospitalized during 2002-2012 with acute disseminated encephalomyelitis (ADEM), and identified prognostic risk factors.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"15-15"},"PeriodicalIF":0.0,"publicationDate":"2016-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67165183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Utility of Double Inversion Recovery Sequences in MRI","authors":"Maura E. Ryan","doi":"10.15844/pedneurbriefs-30-4-1","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-4-1","url":null,"abstract":"Investigators from the Mayo Clinic, Rochester Minnesota investigated the utility of three-dimensional (3D) double inversion recovery (DIR) sequences in magnetic resonance imaging (MRI) detection of focal cortical dysplasia (FCD) in children and young adults with epilepsy.","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 1","pages":"26 - 26"},"PeriodicalIF":0.0,"publicationDate":"2016-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67164776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Utility of Pediatric Nerve Biopsy in Tertiary Care Referral.","authors":"Colin Quinn, Chafic Karam","doi":"10.15844/pedneurbriefs-30-3-3","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-3-3","url":null,"abstract":"<p><p>Investigators from Mayo Clinic in Rochester, MN, report the utility of nerve biopsy as a diagnostic tool in their institution. </p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 3","pages":"20"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34652899","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":"Autoimmune Post-Herpes Simplex Encephalitis.","authors":"Ana B Chelse, Leon G Epstein","doi":"10.15844/pedneurbriefs-30-3-6","DOIUrl":"https://doi.org/10.15844/pedneurbriefs-30-3-6","url":null,"abstract":"<p><p>Investigators at August Pi Sunyer Biomedical Research Institute and University of Barcelona performed a prospective surveillance study in 14 patients with immune-mediating relapsing symptoms of post-herpes simplex encephalitis (HSE). </p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"30 3","pages":"23"},"PeriodicalIF":0.0,"publicationDate":"2016-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34543205","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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