Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients

Paolo Bonanni, Susanna Casellato, Franco Fabbro, Susanna Negrin

Research output: Contribution to journalArticlepeer-review

Abstract

Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10–20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope. Duration of the seizures could be brief or lengthy. Interictal EEGs revealed functional multifocal abnormalities. The evolution was benign in all patients with seizures remission before the age of 14. This observation expands the spectrum of benign epileptic phenotypes present in Fragile-X-syndrome and may be quite helpful in guiding anticonvulsant management and counseling families as to expectations regarding seizure remission.

Original languageEnglish
Pages (from-to)2753-2757
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number10
DOIs
Publication statusPublished - Oct 1 2017

Keywords

  • autonomic seizure
  • benign focal epilepsies of childhood
  • benign rolandic epilepsy
  • intellectual disability
  • rare neurogenetic disease
  • status epilepticus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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