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Duplications of SLC1A3: Associated with ADHD and autism.
van Amen-Hellebrekers, Claudia J M; Jansen, Sandra; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H; Koolen, David A; Marcelis, Carlo L; de Leeuw, Nicole; de Vries, Bert B A.
Afiliação
  • van Amen-Hellebrekers CJ; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Jansen S; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Schuurs-Hoeijmakers JH; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Koolen DA; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • Marcelis CL; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • de Leeuw N; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
  • de Vries BB; Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: bert.devries@radboudumc.nl.
Eur J Med Genet ; 59(8): 373-6, 2016 Aug.
Article em En | MEDLINE | ID: mdl-27296938
ABSTRACT
We report four patients with a similar gain in 5p13.2 encompassing a single gene SLC1A3. Behavioural problems resembling ADHD and/or autism-like features are observed which is in line with the glial glutamate transporter role of SLC1A3. We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Transtorno Autístico / Duplicação Gênica / Transportador 1 de Aminoácido Excitatório Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Deficit de Atenção com Hiperatividade / Transtorno Autístico / Duplicação Gênica / Transportador 1 de Aminoácido Excitatório Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article