A case of Dravet syndrome with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data

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• 作者：Yoshinori Kobayashi^a ; ^b ; Yoshiyuki Hanaoka^b ; Tomoyuki Akiayma^b ; Iori Ohmori^c ; Mamoru Ouchida^d ; Toshiyuki Yamamoto^e ; Makio Oka^b ; Harumi Yoshinaga^b ; Katsuhiro Kobayashi^b ; ^{k_koba@md.okayama-u.ac.jp}
• 关键词：Dravet syndrome ; Cortical myoclonus ; Jerk-locked averaging ; EEG
• 刊名：Brain and Development
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：39
• 期：1
• 页码：75-79
• 全文大小：1357 K
• 卷排序：39

文摘

We report a female patient with Dravet syndrome (DS) with erratic segmental myoclonus, the origin of which was first identified in the cerebral cortex by the detection of myoclonus-associated cortical discharges. The discharges were disclosed through jerk-locked back-averaging of electroencephalogram (EEG) data using the muscle activity of myoclonus as triggers. The detected spikes on the contralateral parieto-central region preceded myoclonic muscle activity in the forearms by 28–46 ms. The patient was six months old at the time of examination, and was developing normally before seizure onset at two months of age. She suffered from recurrent afebrile or febrile generalized tonic–clonic seizures that often developed into status epilepticus. Interictal EEG and brain magnetic resonance imaging (MRI) showed no significant findings. The amplitudes of the somatosensory-evoked potentials were not extremely large. She has a chromosomal microdeletion involving SCN1A and adjacent genes.