TY - JOUR
T1 - Periodic Epileptiform Discharges in Children with Advanced Stages of Progressive Myoclonic Epilepsy
AU - Isobe, Natsumi
AU - Sakai, Yasunari
AU - Kira, Ryutaro
AU - Sanefuji, Masafumi
AU - Ishizaki, Yoshito
AU - Sakata, Ayumi
AU - Sasazuki, Momoko
AU - Torio, Michiko
AU - Akamine, Satoshi
AU - Torisu, Hiroyuki
AU - Hara, Toshiro
N1 - Funding Information:
This study was supported in part by KAKEN No. 24650199 (awarded to YS), Japan Life Science Foundation (YS), Takeda Science Foundation (YS), and The Mother and Child Health Foundation (YS).
Publisher Copyright:
© EEG and Clinical Neuroscience Society.
PY - 2016/10/1
Y1 - 2016/10/1
N2 - 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.
AB - 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.
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U2 - 10.1177/1550059415579767
DO - 10.1177/1550059415579767
M3 - Article
C2 - 25828483
AN - SCOPUS:84991217551
SN - 1550-0594
VL - 47
SP - 317
EP - 323
JO - Clinical EEG and Neuroscience
JF - Clinical EEG and Neuroscience
IS - 4
ER -