Epilepsy in patients with duplications of chromosome 14 harboring FOXG1

Giuseppe Pontrelli, Simona Cappelletti, Dianela Claps, Pietro Sirleto, Laura Ciocca, Stefano Petrocchi, Alessandra Terracciano, Domenico Serino, Lucia Fusco, Federico Vigevano, Nicola Specchio

Research output: Contribution to journalArticlepeer-review


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. Patients 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.

Original languageEnglish
Pages (from-to)530-535
Number of pages6
JournalPediatric Neurology
Issue number5
Publication statusPublished - 2014


  • chromosome 14 duplication
  • epilepsy
  • epileptic spasms
  • FOXG1
  • genetic

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology
  • Medicine(all)


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