Similarities of EEG and seizures in del(1q) and benign rolandic epilepsy

Pediatr Neurol. 1996 Oct;15(3):261-4. doi: 10.1016/s0887-8994(96)00175-0.

Abstract

We studied the seizure disorders manifested by three previously reported children with "de novo" terminal deletions of the long arm of chromosome 1 (46,XX,del(1)(q43)) and similar clinical phenotypes. In late infancy, two of these children developed partial seizures characterized by tonic-clonic movements of the ipsilateral face and arm with occasional involvement of the leg. In both children, the seizure frequency decreased with increasing age. Electroencephalograms of these two children demonstrated centrotemporal spike discharges morphologically similar to rolandic spikes. Although these cases present significant similarities to benign rolandic epilepsy, they also express many manifestations not detected in benign rolandic epilepsy that may reflect the extensive deletion of chromosome 1. Based on the seizure semiology and centrotemporal epileptiform discharges, we suggest that the distal portion of the long arm of chromosome 1 is a potential site for a candidate gene for benign rolandic epilepsy.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Age Factors
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Electroencephalography
  • Epilepsy, Rolandic / genetics*
  • Epilepsy, Rolandic / physiopathology
  • Female
  • Humans
  • Infant
  • Seizures / genetics*