scholarly journals The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21

2020 ◽  
Vol 12 (3) ◽  
pp. 270-275
Author(s):  
Koji Obara ◽  
Tsuyoshi Imota ◽  
Shigeo Mamiya ◽  
Itaru Toyoshima

Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body. Video-EEG recordings demonstrated generalized polyspike-wave discharges consistent with myoclonic jerks, which were exacerbated by photo-stimulation. Her myoclonus completely resolved with perampanel administration. Perampanel was effective for myoclonic seizures in our patient. We suggest that perampanel is an option as first-line therapy for epilepsy and myoclonus in elderly Down syndrome patients.

2007 ◽  
Vol 7 (3) ◽  
pp. 215-218 ◽  
Author(s):  
Frenny J Sheth ◽  
Uppala Radhakrishna ◽  
Michael A Morris ◽  
Jean-Louis Blouin ◽  
Jayesh J Sheth ◽  
...  

2005 ◽  
Vol 5 (4) ◽  
pp. 147-148 ◽  
Author(s):  
Theodore H. Schwartz

Clinical Manifestations of Insular Lobe Seizures: A Stereo-electroencephalographic Study Isnard J, Guenot M, Sindou M, Mauguiere F Epilepsia 2004;45:1079–1090 Purpose In this study, we report the clinical features of insular lobe seizures based on data from video and stereoelectroencephalographic ictal recordings and direct electric insular stimulation of the insular cortex performed in patients referred for presurgical evaluation of temporal lobe epilepsy (TLE). Methods Since our first recordings of insular seizures, the insular cortex has been included as one of the targets of stereoelectroencephalographic electrode implantation in 50 consecutive patients with TLE whose seizures were suspected to originate from, or rapidly to propagate to, the perisylvian cortex. In six, a stereotyped sequence of ictal symptoms associated with intrainsular discharges could be identified. Results This ictal sequence occurred in full consciousness, beginning with a sensation of laryngeal constriction and paresthesiae, often unpleasant, affecting large cutaneous territories, most often at the onset of a complex partial seizure (five of the six patients). It was eventually followed by dysarthric speech and focal motor convulsive symptoms. The insular origin of these symptoms was supported by the data from functional cortical mapping of the insula by using direct cortical stimulations. Conclusions This sequence of ictal symptoms looks reliable enough to characterize insular lobe epileptic seizures. Observation of this clinical sequence at the onset of seizures on video-EEG recordings in TLE patients strongly suggests that the seizure-onset zone is located not in the temporal but in the insular lobe; recording directly from the insular cortex should occur before making any decision regarding epilepsy surgery.


2017 ◽  
Vol 173 (12) ◽  
pp. 3153-3157
Author(s):  
Manesha Putra ◽  
Urvashi Surti ◽  
Jie Hu ◽  
Deana Steele ◽  
Michele Clemens ◽  
...  

2021 ◽  
Vol 10 (13) ◽  
pp. 2776
Author(s):  
Miren Altuna ◽  
Sandra Giménez ◽  
Juan Fortea

Individuals with Down syndrome (DS) have an increased risk for epilepsy during the whole lifespan, but especially after age 40 years. The increase in the number of individuals with DS living into late middle age due to improved health care is resulting in an increase in epilepsy prevalence in this population. However, these epileptic seizures are probably underdiagnosed and inadequately treated. This late onset epilepsy is linked to the development of symptomatic Alzheimer’s disease (AD), which is the main comorbidity in adults with DS with a cumulative incidence of more than 90% of adults by the seventh decade. More than 50% of patients with DS and AD dementia will most likely develop epilepsy, which in this context has a specific clinical presentation in the form of generalized myoclonic epilepsy. This epilepsy, named late onset myoclonic epilepsy (LOMEDS) affects the quality of life, might be associated with worse cognitive and functional outcomes in patients with AD dementia and has an impact on mortality. This review aims to summarize the current knowledge about the clinical and electrophysiological characteristics, diagnosis and treatment of epileptic seizures in the DS population, with a special emphasis on LOMEDS. Raised awareness and a better understanding of epilepsy in DS from families, caregivers and clinicians could enable earlier diagnoses and better treatments for individuals with DS.


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