4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern

Epilepsia. 1995 Dec;36(12):1206-14. doi: 10.1111/j.1528-1157.1995.tb01064.x.

Abstract

We report an electroclinical and cytogenetic study of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited by eye closure; burst of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12-p13 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12-p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.

Publication types

  • Case Reports

MeSH terms

  • Angelman Syndrome / diagnosis*
  • Child
  • Child, Preschool
  • Chromosomes / genetics*
  • DNA Damage
  • Electroencephalography*
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Seizures / diagnosis*