title: Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.
abstract: While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology. Seventy-six patients were collected from 10 institutions. Chromosome abnormalities included: Down syndrome (n = 19); Angelman syndrome (n = 8); Prader-Willi syndrome (n = 4); 4p- syndrome (n = 3); 1q- syndrome (n = 2); 5p- syndrome (n = 2); Miller-Dieker syndrome (n = 2); 18q- syndrome; (n = 2); Klinefelter syndrome; (n = 2); and 32 other individual chromosomal aberrations. Overall, the severity of mental retardation correlated with the severity of epilepsy. We could abstract characteristic features of epilepsy in some syndromes. In Angelman and Prader-Willi syndromes, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple. Paroxysmal discharge of the occipital region and diffuse high voltage slow wave on electroencephalography were characteristic in Angelman syndrome. In Down syndrome, West syndrome and focal epilepsy were common and the prognosis of epilepsy in West syndrome with Down syndrome was good. In 4p- syndrome, febrile seizures were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic. For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy.
authors.affiliation: Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Kumada
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ito
authors.forename: Tomoko
authors.initials: T
authors.lastname: Miyajima
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Fujii
authors.forename: Takehiko
authors.initials: T
authors.lastname: Okuno
authors.forename: Toshin
authors.initials: T
authors.lastname: Go
authors.forename: Haruo
authors.initials: H
authors.lastname: Hattori
authors.forename: Mieko
authors.initials: M
authors.lastname: Yoshioka
authors.forename: Kenichiro
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authors.lastname: Kobayashi
authors.forename: Osamu
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authors.lastname: Kanazawa
authors.forename: Jun
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authors.lastname: Tohyama
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Akasaka
authors.forename: Takanori
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authors.lastname: Kamimura
authors.forename: Mutsuo
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authors.lastname: Sasagawa
authors.forename: Hideki
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authors.lastname: Amagane
authors.forename: Kozo
authors.initials: K
authors.lastname: Mutoh
authors.forename: Yuriko
authors.initials: Y
authors.lastname: Yamori
authors.forename: Toyoko
authors.initials: T
authors.lastname: Kanda
authors.forename: Naoko
authors.initials: N
authors.lastname: Yoshida
authors.forename: Haruyo
authors.initials: H
authors.lastname: Hirota
authors.forename: Rieko
authors.initials: R
authors.lastname: Tanaka
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Hamada
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D011379:Prognosis