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Duplications of SLC1A3: Associated with ADHD and autism

Authors :
Amen-Hellebrekers, C.J. van
Jansen, S
Pfundt, R.P.
Schuurs-Hoeijmakers, J.H.M.
Koolen, D.A.
Marcelis, C.L.
Leeuw, N. de
Vries, B.B.A. de
Amen-Hellebrekers, C.J. van
Jansen, S
Pfundt, R.P.
Schuurs-Hoeijmakers, J.H.M.
Koolen, D.A.
Marcelis, C.L.
Leeuw, N. de
Vries, B.B.A. de
Source :
European Journal of Medical Genetics; 373; 376; 1769-7212; 8; 59; ~European Journal of Medical Genetics~373~376~~~1769-7212~8~59~~
Publication Year :
2016

Abstract

Item does not contain fulltext<br />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.

Details

Database :
OAIster
Journal :
European Journal of Medical Genetics; 373; 376; 1769-7212; 8; 59; ~European Journal of Medical Genetics~373~376~~~1769-7212~8~59~~
Publication Type :
Electronic Resource
Accession number :
edsoai.on1283996336
Document Type :
Electronic Resource