A rare cause of drug-resistant epilepsy and nonconvulsive status epilepticus: Ring chromosome 20

The electroclinical features of two Thai women with ring chromosome 20 and nonconvulsive status epilepticus (NCSE) were studied. Both have also had generalized tonic-clonic seizures and complex partial seizures of varying frequencies since adolescence. Their intellectual functions were normal. Twenty-four-hour video/EEG telemetry recorded during the NCSE showed fluctuating consciousness between overt unresponsiveness and normal awareness. The EEG consisted of long-lasting generalized rhythmic 3–5 Hz sharp or slow waves with a few spikes, lasting several days. Despite the continuous discharges, the patients had relatively subtle clinical episodes of seizures, during which they were sometimes responsive to verbal stimuli. Intravenous antiepileptic drugs (AED) had little effect on the rhythmic EEG. No lesion in their MRIs contributed to NCSE. Ring chromosome 20 was found in 20% of female karyotype in both patients [46,XX, r(20) (p13 q13)/46,XX] but were negative in four healthy siblings. Oral AEDs decreased more than 75% of the overt CPS episodes in both patients at 22 and 26 months of follow-up but had no effect on the natural history of electrical NCSE. The patients' daily activities were minimally affected by the ongoing electrical discharges. These are the first two cases reported of ring chromosome 20 with NCSE in Thailand. Our patients present a rather benign and pharmacologically responsive course probably because of the low percentage of r(20) mosaicism. The electroclinical correlations in our cases raise the possibility that the mechanism of continuous rhythmic waves in this syndrome may be unrelated to epilepsy. Assessing the severity of this syndrome using both clinical seizures and EEG is crucial.

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A case of drug-resistant epilepsy associated with ring Chromosome 20

Annals of Indian Academy of Neurology ◽

10.4103/aian.aian_1292_20 ◽

2021 ◽

Vol 0 (0) ◽

pp. 0

Author(s):

Sita Jayalakshmi ◽

Anvesh Balabhadra ◽

Mihir Parekh ◽

Anuja Patil

Keyword(s):

Ring Chromosome ◽

Drug Resistant ◽

Chromosome 20 ◽

Drug Resistant Epilepsy

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Ketogenic Diet Therapies for Seizures and Status Epilepticus

Seminars in Neurology ◽

10.1055/s-0040-1719077 ◽

2020 ◽

Vol 40 (06) ◽

pp. 719-729

Author(s):

Tanya J. W. McDonald ◽

Mackenzie C. Cervenka

Keyword(s):

Status Epilepticus ◽

Ketogenic Diet ◽

Care Setting ◽

Drug Resistant ◽

Anesthetic Agents ◽

Ketogenic Diets ◽

Potential Efficacy ◽

Low Carbohydrate ◽

History Of ◽

Drug Resistant Epilepsy

AbstractKetogenic diet therapies are high-fat, low-carbohydrate diets designed to mimic a fasting state. Although initially developed nearly one century ago for seizure management, most clinical trials for the management of drug-resistant epilepsy in children as well as adults have been conducted over the last 3 decades. Moreover, ketogenic diets offer promising new adjunctive strategies in the critical care setting for the resolution of acute status epilepticus when traditional antiseizure drugs and anesthetic agents fail. Here, we review the history of ketogenic diet development, the clinical evidence supporting its use for the treatment of drug-resistant epilepsy in children and adults, and the early evidence supporting ketogenic diet feasibility, safety, and potential efficacy in the management of status epilepticus.

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Ketogenic Diets for Adults with Highly Refractory Epilepsy

Epilepsy Currents ◽

10.5698/1535-7597.17.6.346 ◽

2017 ◽

Vol 17 (6) ◽

pp. 346-350 ◽

Cited By ~ 16

Author(s):

Tanya J. W. McDonald ◽

Mackenzie C. Cervenka

Keyword(s):

Status Epilepticus ◽

Side Effects ◽

Ketogenic Diet ◽

Refractory Epilepsy ◽

Diet Therapy ◽

Drug Resistant ◽

Ketogenic Diets ◽

Current Review ◽

Drug Resistant Epilepsy

The current review highlights the evidence supporting the use of ketogenic diets in the management of drug-resistant epilepsy and status epilepticus in adults. Ketogenic diet variants are compared and advantages and potential side effects of diet therapy are discussed.

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Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report

Journal of Pediatric Genetics ◽

10.1055/s-0041-1726281 ◽

2021 ◽

Author(s):

Stefano Parravicini ◽

Ludovica Pasca ◽

Martina Paola Zanaboni ◽

Costanza Varesio ◽

Elisa Rognone ◽

...

Keyword(s):

Potential Role ◽

Therapeutic Option ◽

Disease Onset ◽

Ring Chromosome ◽

Dopamine Depletion ◽

Childhood Onset ◽

Chromosomal Disorder ◽

Chromosome 20 ◽

Drug Resistant Epilepsy

AbstractRing chromosome 20 or r(20) syndrome is a rare chromosomal disorder, mainly characterized by childhood-onset drug-resistant epilepsy with typical electroencephalographic findings, followed by mild to severe cognitive-behavioral decline. Recent studies support a possible role of the dopaminergic system in the epileptogenesis of this syndrome. We report the case of a 13-year-old female with mosaic r(20) who showed typical disease onset and evolution and a remarkable electroclinical improvement with zonisamide. Epilepsy related to r(20) is often medically intractable. When valproate and lamotrigine are not effective, zonisamide could be further investigated as a therapeutic option, since it acts as antifocal and it has a potential role in the prevention of dopamine depletion.

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