Abstract | BACKGROUND: CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation. One month after birth, his myoclonuses worsened in frequency. Electroencephalogram (EEG) showed a burst and suppression pattern, and myoclonuses occurred in the burst phase with diffuse polyspikes on EEG. At five months, inter-ictal EEG revealed hypsarrhythmia, but his attacks were still only myoclonuses. ACTH treatment was effective and the myoclonus frequency markedly decreased. At one year of age, whole-exome sequencing revealed a heterozygous mutation of the KCNQ2 gene (NM_172107.2): c.601C>T; p.(Arg201Cys), which was confirmed as de novo by Sanger sequencing. This mutation lies within the extracellular portion of the S4 voltage sensor. CONCLUSION: Most patients with a KCNQ2 mutation present with seizures starting in the neonatal period with varying severity, ranging from BFNS to Ohtahara syndrome. Furthermore, KCNQ2 appears to be a causative gene for EME.
|
Authors | Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata |
Journal | Brain & development
(Brain Dev)
Vol. 40
Issue 1
Pg. 69-73
(Jan 2018)
ISSN: 1872-7131 [Electronic] Netherlands |
PMID | 28687180
(Publication Type: Case Reports, Journal Article)
|
Copyright | Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Chemical References |
- KCNQ2 Potassium Channel
- KCNQ2 protein, human
|
Topics |
- Electroencephalography
- Epilepsies, Myoclonic
(genetics)
- Epilepsy
(genetics)
- Humans
- Infant
- Infant, Newborn
- KCNQ2 Potassium Channel
(genetics, metabolism)
- Male
- Mutation
- Seizures
(genetics)
- Spasms, Infantile
|