title: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
abstract: 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.
  
  
  CONCLUSIONS
  Our observations provide an initial delineation of the behavioral phenotype of GRIN2B mutation carriers.
authors.forename: Inga
authors.initials: I
authors.lastname: Freunscht
authors.forename: Bernt
authors.initials: B
authors.lastname: Popp
authors.forename: Rainer
authors.initials: R
authors.lastname: Blank
authors.forename: Sabine
authors.initials: S
authors.lastname: Endele
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
authors.forename: Holger
authors.initials: H
authors.lastname: Petri
authors.forename: Eva-Christina
authors.initials: EC
authors.lastname: Prott
authors.forename: Andre
authors.initials: A
authors.lastname: Reis
authors.forename: Jochen
authors.initials: J
authors.lastname: Rübo
authors.forename: Bernhard
authors.initials: B
authors.lastname: Zabel
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Johannes
authors.initials: J
authors.lastname: Hebebrand
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
mesh_terms: D000293:Adolescent; D001526:Behavioral Symptoms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology*; D008297:Male; D009154:Mutation; D010641:Phenotype; D011569:Psychiatric Status Rating Scales; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*
chemical_list: C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate