title: Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy.
abstract: Huntington's disease (HD) and dentatorubral-pallidoluysian atrophy (DRPLA) are monogenic forms of neurodegenerative disorders with autosomal dominant inheritance. Compared with adult-onset HD and DRPLA, children with these disorders are more severely affected and are known to manifest the devastating symptoms of progressive myoclonic epilepsy (PME) syndrome. In this report, we present a 6-year-old girl with HD from a family, and 2 siblings with DRPLA from another unrelated family. Serial neuroimaging and electroencephalography (EEG) studies showed that periodic epileptiform discharges and synchronized paroxysmal activity became prominent with their disease progression. Periodic complexes in EEG may emerge at advanced stages of childhood PME as a consequence of rapidly degenerating processes of their brain functions.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.|Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
authors.forename: Natsumi
authors.initials: N
authors.lastname: Isobe
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan ysakai22q13@gmail.com.
authors.forename: Yasunari
authors.initials: Y
authors.lastname: Sakai
authors.affiliation: Fukuoka Children's Hospital, Fukuoka, Japan.
authors.forename: Ryutaro
authors.initials: R
authors.lastname: Kira
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.|Research Center for Environment and Developmental Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Sanefuji
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Ishizaki
authors.affiliation: Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Sakata
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Momoko
authors.initials: M
authors.lastname: Sasazuki
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Torio
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Akamine
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.|Section of Pediatrics, Department of Medicine, Fukuoka Dental College, Fukuoka, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Torisu
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D001683:Biological Clocks; D001921:Brain / Q000503:physiopathology*; D058256:Brain Waves; D002648:Child; D004569:Electroencephalography / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000503:physiopathology*; D010507:Periodicity; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
keywords: Huntington disease; dentatorubral-pallidoluysian atrophy; electroencephalography; periodic lateralized epileptiform discharges (PLEDs); poly-glutamine diseases; progressive myoclonic epilepsy (PME)