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

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, aggravat...

Full description

Saved in:
Bibliographic Details
Published inSeizure (London, England) Vol. 21; no. 4; pp. 295 - 299
Main Authors Nakayama, Tojo, Nabatame, Shin, Saito, Yoshiaki, Nakagawa, Eiji, Shimojima, Keiko, Yamamoto, Toshiyuki, Kaneko, Yu, Okumura, Keiko, Fujie, Hiromi, Uematsu, Mitsugu, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.05.2012
Subjects
8p deletion
9p duplication
Child
Chromosome imbalance
Chromosomes, Human, Pair 8 - genetics
Chromosomes, Human, Pair 9 - genetics
Comparative Genomic Hybridization
Electrical status epilepticus in sleep
Female
Humans
In Situ Hybridization, Fluorescence
Male
Neurology
Polymicrogyria
Sleep Disorders, Intrinsic - complications
Sleep Disorders, Intrinsic - genetics
Status Epilepticus - complications
Status Epilepticus - genetics
Translocation, Genetic
Polymicrogyria
Electrical status epilepticus in sleep
8p deletion
Chromosome imbalance
9p duplication
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1059-1311
1532-2688
DOI:10.1016/j.seizure.2012.01.002