Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
作者: Gabriella A. HorvathMichelle DemosCasper ShyrAllison MatthewsLinhua ZhangSimone RaceSylvia Stockler-IpsirogluMargot I. Van AllenOgan MancarciLilah TokerPaul PavlidisColin J. RossWyeth W. WassermanNatalie TrumpSimon HealesSimon PopeJ. Helen CrossClara D.M. van Karnebeek
作者单位: 1Division of Biochemical Diseases, Dept of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada
2Div. of Pediatric Neurology, Dept of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada
3Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada
4Department of Medical Genetics, University of British Columbia, Vancouver, Canada
5Department of Psychiatry and Michael Smith Laboratories, University of British Columbia, Vancouver, Canada
6Molecular Genetics, Great Ormond Street Hospital for Children, London, United Kingdom
7Neurometabolic Unit, National Hospital, Queen Square, London, United Kindgdom
8Chemical Pathology, Great Ormond Street Hospital, UCL Institute of Child Health, London, United Kingdom
9Developmental Neurosciences Programme, UCL Institute of Child Health, and Great Ormond Street Hospital for Children, London, United Kingdom
刊名: Molecular Genetics and Metabolism, 2016, Vol.117 (1), pp.42-48
来源数据库: Elsevier Journal
DOI: 10.1016/j.ymgme.2015.11.008
关键词: SeizuresChannelopathySCN2ASCN8ANa v 1.2Na v 1.6DopamineSerotoninTherapy
原始语种摘要: Abstract(#br)We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de novo SCN2A splice-site mutation (c.2379+1G>A, p.Glu717Gly.fs*30) resulting in deletion of exon 14, in a 10-year old male with early onset global developmental delay, intermittent ataxia, autism, hypotonia, epileptic encephalopathy and cerebral/cerebellar atrophy. In the cerebrospinal fluid both homovanillic acid and 5-hydroxyindoleacetic acid were significantly decreased; extensive biochemical and genetic investigations ruled out primary neurotransmitter deficiencies and other known inborn errors of...
全文获取路径: Elsevier  (合作)
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影响因子:2.834 (2012)

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