Epilepsy in ring chromosome 20 syndrome

Aglaia Vignoli, Francesca Bisulli, Francesca Darra, Massimo Mastrangelo, Carmen Barba, Lucio Giordano, Katherine Turner, Elena Zambrelli, Valentina Chiesa, Stefania Bova, Isabella Fiocchi, Angela Peron, Ilaria Naldi, Giuseppe Milito, Laura Licchetta, Paolo Tinuper, Renzo Guerrini, Bernardo Dalla Bernardina, Maria Paola Canevini

Research output: Contribution to journalArticlepeer-review


Objective Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. We characterized the electro-clinical phenotype and the long-term course of epilepsy in a large series. Methods We reviewed the electro-clinical phenotype of 25 patients (aged 8–59 years), and assessed the relationship between epilepsy severity and clinical and/or genetic variables. We also searched for reports of patients diagnosed with r(20) syndrome in the literature, included those whose clinical information was sufficiently accurate, and compared their clinical features with the ones of our patients. Results Epilepsy exhibited an age dependent course. When seizure onset occurred in childhood (21 patients), terrifying hallucinations associated with focal motor seizures, often sleep-related (8 patients), or dyscognitive seizures (13 patients), were prominent features, often evolving into epileptic encephalopathy associated with non-convulsive status epilepticus (11 patients). In the long-term, progressive stabilization of drug resistant epilepsy associated with non-convulsive status epilepticus, focal seizures with motor and autonomic features, and eyelid myoclonia were noticed. Epilepsy onset in adolescence (3 patients) was accompanied by a milder developmental course, dyscognitive seizures and non-convulsive status epilepticus, and no cognitive decline. Only three older patients became seizure free (>5 years) We found statistically significant correlations between age at epilepsy onset and cognitive level. Although in the study cohort the relationship between r(20) ratio, age at epilepsy onset and cognitive level was non-statistically significant, it reached significance evaluating the larger cohort of patients previously published. Significance In ring(20) syndrome, epilepsy has an age dependent course and a worse outcome when age at seizure onset is earlier. The r(20) ratio and severity of cognitive impairment appear to be directly related to each other and inversely correlated with the age at epilepsy onset.

Original languageEnglish
Pages (from-to)83-93
Number of pages11
JournalEpilepsy Research
Publication statusPublished - Dec 1 2016


  • Age-dependent course
  • Epileptic encephalopathy
  • Ring chromosome 20 syndrome
  • Seizure semiology

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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