title: 14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?
abstract: BACKGROUND
  Duplications of 14q12 encompassing FOXG1 gene have been recently associated with developmental delay, severe speech impairment, epilepsy, aspecific neuroimaging findings and minor dysmorphisms.
  
  
  OBJECTIVE
  In order to refine the epileptic phenotype associated with 14q12 duplications, we have performed a review of the electroclinical picture of the patients reported to date in the literature, adding a new personal case. A comprehensive set of clinical and instrumental data (with a particular focus on the electroclinical aspects including seizure type, age of onset, EEG at onset and after antiepileptic therapy, drug efficacy) has been taken into account.
  
  
  RESULTS
  9/14 patients carrying 14q12 duplications developed seizures, all in the first months of life. Most of them developed infantile spasms (8/9 epileptic patients) and presented hypsarrhythmia or modified hypsarrhythmia on EEG. After therapy 5/9 patients became seizure free and 3/9 present a good seizure control. At last available follow up, 2/3 of the epileptic patients displayed an almost normal EEG, or a quite organized background activity, with diffuse or focal (mostly temporal) slowing.
  
  
  CONCLUSIONS
  The review of the available data allowed to recognize a common epileptic core, characterized by early onset, age dependent epileptic encephalopathy with infantile spasms and typical, atypical or modified hypsarrhythmia. Antiepileptic therapy soon led to a good or complete control of seizures with a nearly normal background activity in most patients.
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Bertossi
authors.affiliation: Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Cassina
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: De Palma
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Marilena
authors.initials: M
authors.lastname: Vecchi
authors.affiliation: Pediatric Unit, City Hospital of Thiene, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Rossato
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.affiliation: Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Donà
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Murgia
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.
authors.forename: Clementina
authors.initials: C
authors.lastname: Boniver
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy. Electronic address: stefano.sartori@unipd.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
mesh_terms: D017668:Age of Onset; D001921:Brain / Q000187:drug effects / Q000503:physiopathology; D058674:Chromosome Duplication; D002883:Chromosomes, Human, Pair 14; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D005145:Face / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007223:Infant; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins
keywords: 14q12 duplication; Epileptic encephalopathy; FOXG1; Infantile spasms