8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

Tojo Nakayama, Shin Nabatame, Yoshiaki Saito, Eiji Nakagawa, Keiko Shimojima, Toshiyuki Yamamoto, Yu Kaneko, Keiko Okumura, Hiromi Fujie, Mitsugu Uematsu, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)

Abstract

We describe two individuals with the same chromosomal aberrations derived from an unbalanced translocation between chromosomes 8p and 9p, who presented with intellectual disabilities, dysmorphic features, and localization-related epilepsy. Several years after the onset of epilepsy, aggravation of widespread epileptic discharges during sleep resulted in the emergence of absence and/or atonic seizures in both patients; one patient additionally presented with psychomotor deterioration. These symptoms completely disappeared after treatment with ethosuximide and benzodiazepines, and marked improvement was observed in electroencephalographic findings. We review the clinical features of der(8)t(8;9) with particular focus on epileptic complications. We conclude that particular types of chromosomal aberrations may have a propensity to develop the condition categorized as electrical status epilepticus in sleep.

Original languageEnglish
Pages (from-to)295-299
Number of pages5
JournalSeizure
Volume21
Issue number4
DOIs
Publication statusPublished - 2012 May

Keywords

  • 8p deletion
  • 9p duplication
  • Chromosome imbalance
  • Electrical status epilepticus in sleep
  • Polymicrogyria

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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