title: Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.
abstract: BACKGROUND
  Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transcription factor with a role in brain development.
  
  
  METHODS
  We extensively reviewed all published cases with dup(14) harboring FOXG1 and highlighted those epileptological features that are more commonly found among such cases. We also describe one new patient, detailing his peculiar clinical and neurophysiological findings.
  
  
  RESULTS
  To date, 15 patients with dup(14) including FOXG1 have been reported; within those patients, nine also presented with epilepsy. At onset, the more frequent seizure type in the report and also in our patient is the epileptic spasm. Focal seizures might also be present. Outcomes in patients with epilepsy associated with dup(14) should be considered separately regarding seizures and cognitive and motor development. In the majority of patients (seven of 10, including ours), seizures tend to disappear and motor skills improve; however, instead stagnation of cognitive development is evident in all of them, associated with severe speech difficulties.
  
  
  CONCLUSIONS
  There are some common features that should be considered: seizures with onset during the first year of life, particularly clusters of spasms and focal seizures with hypsarrhythmic electroencephalograph pattern; different degrees of cognitive impairment possibly associated with behavior disturbances and severe speech disabilities; and dysmorphic features in the absence of significant microcephaly.
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy; "Amaducci" Neurology Unit, Department of Neuroscience, University of Bari, Bari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pontrelli
authors.affiliation: Unit of Clinical Psychology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Cappelletti
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Dianela
authors.initials: D
authors.lastname: Claps
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Sirleto
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Ciocca
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Petrocchi
authors.affiliation: Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesú Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Terracciano
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Serino
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Fusco
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy. Electronic address: nicola.specchio@opbg.net.
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D058674:Chromosome Duplication; D002883:Chromosomes, Human, Pair 14; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins
keywords: FOXG1; chromosome 14 duplication; epilepsy; epileptic spasms; genetic