Article
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
Behavioral and brain functions : BBF - 29 May 2013
Freunscht Inga, Popp Bernt, Blank Rainer, Endele Sabine, Moog Ute, Petri Holger, Prott Eva-Christina, Reis Andre, Rübo Jochen, Zabel Bernhard, Zenker Martin, Hebebrand Johannes, Wieczorek Dagmar
Abstract excerpt
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...
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