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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg, Tommy; McTague, Amy; Ruiz, Arnaud J; Hirata, Hiromi; Zhen, Juan; Long, Philip; Farabella, Irene; Meyer, Esther; Kawahara, Atsuo; Vassallo, Grace; Stivaros, Stavros M; Bjursell, Magnus K; Stranneheim, Henrik; Tigerschiöld, Stephanie; Persson, Bengt; Bangash, Iftikhar; Das, Krishna; Hughes, Deborah; Lesko, Nicole; Lundeberg, Joakim; Scott, Rod C; Poduri, Annapurna; Scheffer, Ingrid E; Smith, Holly; Gissen, Paul; Schorge, Stephanie; Reith, Maarten E A; Topf, Maya; Kullmann, Dimitri M; Harvey, Robert J; Wedell, Anna; Kurian, Manju A.
Afiliação
  • Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • McTague A; Neuropediatric Unit, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
  • Ruiz AJ; Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Hirata H; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Zhen J; Department of Pharmacology, UCL School of Pharmacy, London WC1N 1AX, UK.
  • Long P; Department of Chemistry and Biological Science, Graduate School of Science and Engineering, Aoyama Gakuin University, Sagamihara 252-5258 Kanagawa, Japan.
  • Farabella I; Center for Frontier Research, National Institute of Genetics, Yata 1111, Mishima, 411-8540 Shizuoka, Japan.
  • Meyer E; PREST, Japan Science and Technology Agency, Tokyo 102-0076, Japan.
  • Kawahara A; Department of Psychiatry, New York University School of Medicine, New York, New York 10016, USA.
  • Vassallo G; Department of Pharmacology, UCL School of Pharmacy, London WC1N 1AX, UK.
  • Stivaros SM; Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, WC1E 7HX, UK.
  • Bjursell MK; Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London WC1N 1EH, UK.
  • Stranneheim H; Laboratory for Developmental Biology, Graduate School of Medical Science, University of Yamanashi, Chuo, 409-3898, Japan.
  • Tigerschiöld S; Department of Neurology, Royal Manchester Children's Hospital, Manchester, M13 9WL, UK.
  • Persson B; Academic Department of Radiology, Royal Manchester Children's Hospital, Manchester, M13 9WL, UK.
  • Bangash I; Imaging Science, School of Population Health, University of Manchester, Manchester, M13 9PL, UK.
  • Das K; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Hughes D; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Lesko N; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
  • Lundeberg J; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Scott RC; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
  • Poduri A; Department of Cell and Molecular Biology, Science for Life Laboratory, Uppsala University, SE-751 24 Uppsala, Sweden.
  • Scheffer IE; Department of Medical Biochemistry and Biophysics, Science for Life Laboratory, Karolinska Institutet, SE-171 21 Stockholm, Sweden.
  • Smith H; EEG Department, Royal Oldham Hospital, OL1 2JH, Oldham, Lancashire, UK.
  • Gissen P; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Schorge S; Young Epilepsy, RH7 6PW, Lingfield, Surrey, UK.
  • Reith ME; Department of Molecular Neuroscience, UCL Institute of Neurology, WC1N 3BG, London, UK.
  • Topf M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
  • Kullmann DM; Department of Laboratory Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Harvey RJ; Science for Life Laboratory, School of Biotechnology, Royal Institute of Technology, SE-100 44 Stockholm, Sweden.
  • Wedell A; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Kurian MA; Department of Neurological Sciences, University of Vermont College of Medicine, Vermont, VT 05405, USA.
Nat Commun ; 6: 8038, 2015 Sep 03.
Article em En | MEDLINE | ID: mdl-26333769
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cloretos / Epilepsias Parciais / Simportadores / Inibição Neural / Neurônios Limite: Animals / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Suécia País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cloretos / Epilepsias Parciais / Simportadores / Inibição Neural / Neurônios Limite: Animals / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Suécia País de publicação: Reino Unido