Ontology highlight
ABSTRACT:
SUBMITTER: Backx L
PROVIDER: S-EPMC2986164 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Backx Liesbeth L Ceulemans Berten B Vermeesch Joris Robert JR Devriendt Koen K Van Esch Hilde H
European journal of human genetics : EJHG 20081015 3
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 psych ...[more]