title: Mowat-Wilson syndrome: neurological and molecular study in seven patients.
abstract: OBJECTIVE
  To present a seven-cases serie of Mowat-Wilson syndrome (MWS).
  
  
  METHODS
  All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization.
  
  
  RESULTS
  A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6). The EEG showed epileptic focal activity (5/7). The imaging studies revealed total agenesis (4/7) and partial agenesis of the corpus callosum (1/7).
  
  
  CONCLUSIONS
  Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.
authors.affiliation: Unidade de Neurologia e Genética, Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: José Albino da
authors.initials: JA
authors.lastname: Paz
authors.affiliation: Unidade de Neurologia e Genética, Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.affiliation: Service de Biochimie Génétique, Hôpital Henri Mondor, Créteil, France.
authors.forename: Michael
authors.initials: M
authors.lastname: Goossens
authors.affiliation: Service de Biochimie Génétique, Hôpital Henri Mondor, Créteil, France.
authors.forename: Irina
authors.initials: I
authors.lastname: Giurgea
authors.affiliation: Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Maria Joaquina
authors.initials: MJ
authors.lastname: Marques-Dias
mesh_terms: D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics* / Q000503:physiopathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics*; D012189:Retrospective Studies; D000074165:Zinc Finger E-box Binding Homeobox 2
chemical_list: D018398:Homeodomain Proteins; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2