14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?

Chiara Bertossi, Matteo Cassina, Luca De Palma, Marilena Vecchi, Sara Rossato, Irene Toldo, Marta Donà, Alessandra Murgia, Clementina Boniver, Stefano Sartori

Research output: Contribution to journalArticlepeer-review


Introduction: Duplications of 14q12 encompassing FOXG1 gene have been recently associated with developmental delay, severe speech impairment, epilepsy, aspecific neuroimaging findings and minor dysmorphisms. Aim and methods: 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.

Original languageEnglish
Pages (from-to)402-407
Number of pages6
JournalBrain and Development
Issue number5
Publication statusPublished - 2014


  • 14q12 duplication
  • Epileptic encephalopathy
  • FOXG1
  • Infantile spasms

ASJC Scopus subject areas

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


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