%0 Journal Article
%@ 1744-9081
%A Freunscht, Inga
%A Popp, Bernt
%A Blank, Rainer
%A Endele, Sabine
%A Moog, Ute
%A Petri, Holger
%A Prott, Eva-Christina
%A Reis, Andre
%A Rübo, Jochen
%A Zabel, Bernhard
%A Zenker, Martin
%A Hebebrand, Johannes
%A Wieczorek, Dagmar
%C London
%D 2013
%F heidok:19724
%I BioMed Central
%J Behavioral and Brain Functions
%N 20
%P 1-11
%T Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
%U https://archiv.ub.uni-heidelberg.de/volltextserver/19724/
%V 9
%X Background: Intellectual disability (ID) is often associated with behavioral problems or disorders. Mutations in the GRIN2B gene (MRD6, MIM613970) have been identified as a common cause of ID (prevalence of 0.5 – 1% in individuals with ID) associated with EEG and behavioral problems.   Methods: We assessed five GRIN2B mutation carriers aged between 3 and 14 years clinically and via standardized questionnaires to delineate a detailed behavioral phenotype. Parents and teachers rated problem behavior of their affected children by completing the Developmental Behavior Checklist (DBC) and the Conners’ Rating Scales Revised (CRS-R:L).   Results: All individuals had mild to severe ID and needed guidance in daily routine. They showed characteristic behavior problems with prominent hyperactivity, impulsivity, distractibility and a short attention span. Stereotypies, sleeping problems and a friendly but boundless social behavior were commonly reported.   Conclusion: Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.