Title: Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
Authors: Backx, Liesbeth
Ceulemans, Berten
Vermeesch, Joris
Devriendt, Koenraad
Van Esch, Hilde # ×
Issue Date: Mar-2009
Series Title: European Journal of Human Genetics vol:17 issue:3 pages:378-382
Abstract: The tyrosine kinase receptor ErbB4 (erythroblastic leukemia viral oncogene homolog 4) plays a crucial role in numerous neurobiological processes in the developing and adult brain. Moreover, recent molecular genetics studies implicate ErbB4 in the pathophysiology of schizophrenia. However, the phenotypic consequences of haploinsufficiency of ErbB4 are not known, as no coding mutations have been identified until now. Here, we present a patient with early myoclonic encephalopathy and profound psychomotor delay with a de novo reciprocal translocation t(2;6)(q34;p25.3), disrupting the ErbB4 gene. This patient represents the first case of haploinsufficiency for one of the ErbB family members of tyrosine kinase receptors.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Child - Miscellaneous (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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