GLUT1DS-related developmental and epileptic encephalopathy
May. 14, 2024
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Myoclonic status epilepticus in idiopathic generalized epilepsy
This 13-year-old girl with juvenile myoclonic epilepsy presented with frequent myoclonic jerks at 12 years of age. Her mother also had myoclonus and seizures. The girl was unable to tolerate valproic acid due to weight gain and transaminitis. On lamotrigine monotherapy, she experienced an increase in the frequency and severity of morning myoclonus, which kept her from getting out of bed in the morning. During elective video-EEG monitoring, she had a cluster of myoclonic jerks recurring every 10 to 30 seconds for 40 minutes. Sample EEG demonstrates a drowsy background with frequent 3 to 4 Hz bifrontally predominant generalized polyspike-wave discharges. Myoclonic jerks involving the trunk, arms, and legs occur in a sequence of 3 to 4 jerks with each polyspike-wave run lasting longer than 2 seconds. The video clip demonstrates several small irregular jerks of her arms which increase with movement, making it difficult for her to grab the remote. At the end of the clip she has a more typical cluster of three larger myoclonic jerks of the trunk. (Video-EEG Courtesy of Dr. Sara Inati.)