title: Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.
abstract: BACKGROUND
  14q12 deletions, including the Forkhead Box G1 (FOXG1) gene and point mutations of this gene, are associated with a complex encephalopathy described as a congenital variant of Rett syndrome. A mixture of jerks, athetosis, chorea, and dystonia is observed early in life in many patients. The aim of this article is to report on the spectrum of movement disorders associated with FOXG1 haploinsufficiency, as described in the literature.
  
  
  METHODS
  We provide a review of the cases reported in the literature, adding two new patients. We searched for a comprehensive set of clinical features, including age at onset and semiology of the movement disorder, occurrence and type of stereotypies, and neurological outcome.
  
  
  RESULTS
  A total of 51 cases were included in our study. Nonepileptic abnormal movements occurred in 33 cases, often variably combined and presenting during the first year of life.
  
  
  CONCLUSIONS
  The neurological phenotype of FOXG1 haploinsufficiency shows the features of a dyskinetic encephalopathy of infancy.
authors.affiliation: Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Bertossi
authors.affiliation: Clinical Genetics Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Cassina
authors.affiliation: Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Ambra
authors.initials: A
authors.lastname: Cappellari
authors.affiliation: Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.affiliation: Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Nosadini
authors.affiliation: Clinical Genetics Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Rigon
authors.affiliation: Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Agnese
authors.initials: A
authors.lastname: Suppiej
authors.affiliation: Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padua, Padua, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
mesh_terms: D001927:Brain Diseases / Q000150:complications* / Q000235:genetics*; D002675:Child, Preschool; D020820:Dyskinesias / Q000150:complications* / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins