Pub Date : 2016-09-01DOI: 10.15844/pedneurbriefs-30-9-1
L. Jennings, D. Kirschmann
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.
{"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}
Pub Date : 2016-08-01DOI: 10.15844/PEDNEURBRIEFS-1-4-9
J. Millichap
The outcome of 19 infants with complications of Arnold-Chiari malformation and meningomyelocele was reviewed at the Depts.
本文回顾了19例合并Arnold-Chiari畸形和脑膜脊膜膨出的婴儿的预后。
{"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}
Pub Date : 2016-08-01DOI: 10.15844/pedneurbriefs-30-8-1
David G. Ritacco
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.
{"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}
Pub Date : 2016-07-01DOI: 10.15844/pedneurbriefs-30-7-1
A. Jeong
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.
{"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}
Pub Date : 2016-06-01DOI: 10.15844/pedneurbriefs-30-6-1
Rahul Sharma, S. Plioplys
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).
{"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}
Pub Date : 2016-05-01DOI: 10.15844/pedneurbriefs-30-5-1
R. García-Sosa, L. Laux
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.
{"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}
Pub Date : 2016-04-05DOI: 10.15844/PEDNEURBRIEFS-30-2-6
Millichap Jg
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.
{"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}
Pub Date : 2016-04-01DOI: 10.15844/pedneurbriefs-30-4-1
Maura E. Ryan
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.
{"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}
Pub Date : 2016-03-01DOI: 10.15844/pedneurbriefs-30-3-3
Colin Quinn, Chafic Karam
Investigators from Mayo Clinic in Rochester, MN, report the utility of nerve biopsy as a diagnostic tool in their institution.
来自明尼苏达州罗切斯特市梅奥诊所的研究人员报告了神经活检作为诊断工具在他们机构中的应用。
{"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}
Pub Date : 2016-03-01DOI: 10.15844/pedneurbriefs-30-3-6
Ana B Chelse, Leon G Epstein
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).
August Pi Sunyer生物医学研究所和巴塞罗那大学的研究人员对14例免疫介导的单纯疱疹后脑炎(HSE)复发症状患者进行了前瞻性监测研究。
{"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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