| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2813664 | European Journal of Medical Genetics | 2016 | 4 Pages |
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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Authors
Claudia J.M. van Amen-Hellebrekers, Sandra Jansen, Rolph Pfundt, Janneke H. Schuurs-Hoeijmakers, David A. Koolen, Carlo L. Marcelis, Nicole de Leeuw, Bert B.A. de Vries,