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

doi:10.1016/j.seizure.2012.01.002

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

6 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 language	English
Pages (from-to)	295-299
Number of pages	5
Journal	Seizure : the journal of the British Epilepsy Association
Volume	21
Issue number	4
DOIs	https://doi.org/10.1016/j.seizure.2012.01.002
Publication status	Published - 2012 May

Keywords

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

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10.1016/j.seizure.2012.01.002

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Nakayama, T., Nabatame, S., Saito, Y., Nakagawa, E., Shimojima, K., Yamamoto, T., Kaneko, Y., Okumura, K., Fujie, H., Uematsu, M., Komaki, H., Sugai, K., & Sasaki, M. (2012). 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. Seizure : the journal of the British Epilepsy Association, 21(4), 295-299. https://doi.org/10.1016/j.seizure.2012.01.002

@article{d93164441a104fc1a16d16d8bb9f15bb,

title = "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, 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.",

keywords = "8p deletion, 9p duplication, Chromosome imbalance, Electrical status epilepticus in sleep, Polymicrogyria",

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

note = "Funding Information: This work was partly supported by a grant for Research on Nervous and Mental Disorders (21B-5) from the Ministry of Health, Labour and Welfare of Japan . ",

year = "2012",

month = may,

doi = "10.1016/j.seizure.2012.01.002",

language = "English",

volume = "21",

pages = "295--299",

journal = "Seizure : the journal of the British Epilepsy Association",

issn = "1059-1311",

publisher = "W.B. Saunders Ltd",

number = "4",

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Nakayama, T, Nabatame, S, Saito, Y, Nakagawa, E, Shimojima, K, Yamamoto, T, Kaneko, Y, Okumura, K, Fujie, H, Uematsu, M, Komaki, H, Sugai, K & Sasaki, M 2012, '8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome', Seizure : the journal of the British Epilepsy Association, vol. 21, no. 4, pp. 295-299. https://doi.org/10.1016/j.seizure.2012.01.002

TY - JOUR

T1 - 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

AU - Nakayama, Tojo

AU - Nabatame, Shin

AU - Saito, Yoshiaki

AU - Nakagawa, Eiji

AU - Shimojima, Keiko

AU - Yamamoto, Toshiyuki

AU - Kaneko, Yu

AU - Okumura, Keiko

AU - Fujie, Hiromi

AU - Uematsu, Mitsugu

AU - Komaki, Hirofumi

AU - Sugai, Kenji

AU - Sasaki, Masayuki

N1 - Funding Information: This work was partly supported by a grant for Research on Nervous and Mental Disorders (21B-5) from the Ministry of Health, Labour and Welfare of Japan .

PY - 2012/5

Y1 - 2012/5

N2 - 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.

AB - 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.

KW - 8p deletion

KW - 9p duplication

KW - Chromosome imbalance

KW - Electrical status epilepticus in sleep

KW - Polymicrogyria

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ER -

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

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Keywords

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