3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior-Reference-Cited by-同舟云学术

3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

Published:2014-09-24 Issue:12 Volume:164 Page:3061-3068
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dikow Nicola¹,Maas Bianca¹,Karch Stephanie²,Granzow Martin¹,Janssen Johannes W.G.¹,Jauch Anna¹,Hinderhofer Katrin¹,Sutter Christian¹,Schubert-Bast Susanne²,Anderlid Britt Marie³,Dallapiccola Bruno⁴,Van der Aa Nathalie⁵,Moog Ute¹

Affiliation:

1. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

2. Center for Child and Adolescent Medicine Pediatric Neurology; Heidelberg University Hospital; Heidelberg Germany

3. Institution of Molecular Medicine and Surgery; CMM; Karolinska Institutet and Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

4. Ospedale Pediatrico Bambino Gesu-IRCCS Roma; Italy

5. Department of Medical Genetics; Antwerp University Hospital and University of Antwerp; Antwerp Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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4. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome;Cargile;Am J Med Genet,2002

5. GABA transporter deficiency causes tremor, ataxia, nervousness, and increased GABA-induced tonic conductance in cerebellum;Chiu;J Neurosci,2005

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