Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

Alessandro Vaisfeld, Serena Spartano, Giuseppe Gobbi, Annamaria Vezzani, Giovanni Neri

Research output: Contribution to journalArticlepeer-review


The ring 14 syndrome is a rare condition caused by the rearrangement of one chromosome 14 into a ring-like structure. The formation of the ring requires two breakpoints and loss of material from the short and long arms of the chromosome. Like many other chromosome syndromes, it is characterized by multiple congenital anomalies and developmental delays. Typical of the condition are retinal anomalies and drug-resistant epilepsy. These latter manifestations are not found in individuals who are carriers of comparable 14q deletions without formation of a ring (linear deletions). To find an explanation for this apparent discrepancy and gain insight into the mechanisms leading to seizures, we reviewed and compared literature cases of both ring and linear deletion syndrome with respect to both their clinical manifestations and the role and function of potentially epileptogenic genes. Knowledge of the epilepsy-related genes in chromosome 14 is an important premise for the search of new and effective drugs to combat seizures. Current clinical and molecular evidence is not sufficient to explain the known discrepancies between ring and linear deletions.

Original languageEnglish
Pages (from-to)25-40
Number of pages16
Issue number1
Publication statusPublished - Jan 2021


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