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Ring Chromosome 20 Syndrome

Also Known As:

R(20) Syndrome; Ring 20 Syndrome; Ring Chromosome 20; Ring Chromosome 20 Epilepsy Syndrome

Networked: 18 relevant articles (3 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Drug Resistant Epilepsy
2.	Bipolar Disorder (Manic Depressive Psychosis)
3.	Seizures (Absence Seizure)
4.	Epilepsy (Aura)
5.	Status Epilepticus (Complex Partial Status Epilepticus)

Experts

1.	Oguni, Hirokazu: 2 articles (09/2016 - 01/2013)
2.	Canevini, M P: 2 articles (10/2010 - 06/2010)
3.	Chiesa, V: 2 articles (10/2010 - 06/2010)
4.	Del Sole, A: 2 articles (10/2010 - 06/2010)
5.	Giordano, L: 2 articles (10/2010 - 06/2010)
6.	Lecchi, M: 2 articles (10/2010 - 06/2010)
7.	Lucignani, G: 2 articles (10/2010 - 06/2010)
8.	Vignoli, A: 2 articles (10/2010 - 06/2010)
9.	Asranna, Ajay: 1 article (03/2022)
10.	Chowdary M, Ravindranadh: 1 article (03/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ring Chromosome 20 Syndrome:

1.	LithiumIBA 11/01/2018 - "We present a case of ring chromosome 20 syndrome in a twelve-year-old girl, with resistant epileptic disease and severe behavioral impairment that both drastically improved after a lithium challenge. " 11/01/2018 - "Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified."
2.	Zonisamide (Zonegran)FDA LinkGeneric 09/01/2023 - "Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report."
3.	ezogabine (retigabine)IBA 11/01/2013 - "We describe an 8-year-old girl with mosaic ring chromosome 20 and refractory epilepsy who had a remarkable improvement in seizure control with ezogabine. " 11/01/2013 - "Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine."
4.	Dihydroxyphenylalanine (Dopa)IBA 10/01/2010 - "Several lines of evidence indicate that the dopaminergic system may play a role in the propagation of epileptic seizures and, indeed, DOPA metabolism impairment has recently been demonstrated in PET studies of ring chromosome 20 [r(20)] patients. " 06/28/2010 - "AIM: Several lines of evidence indicate that the dopaminergic system may play a role in the propagation of epileptic seizures and, indeed, DOPA metabolism impairment has recently been demonstrated in PET studies of ring chromosome 20 [r(20)] patients. "
5.	Lacosamide FDA Link 10/01/2016 - "Significant Improvements of EEG and Clinical Findings With Oral Lacosamide in a Patient With Ring Chromosome 20." 06/01/2020 - "Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome."
6.	Potassium Channels (Potassium Channel)IBA 11/01/2013 - "We hypothesize that ring chromosome 20 patients have epilepsy related to abnormalities in the potassium channels, making it susceptible for treatment with potassium channel openers."
7.	Valproic Acid (Depakote)FDA LinkGeneric 10/16/2003 - "[Ring chromosome 20, hypersensitivity to valproate and hyperammonemic encephalopathy]."
8.	SteroidsIBA 03/01/2022 - "We report a patient with Ring 20 syndrome with refractory focal seizures and non-convulsive status epilepticus who showed good treatment response with intravenous steroids. "
9.	PotassiumIBA 11/01/2013 - "Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine."
10.	Methylprednisolone FDA LinkGeneric 03/01/2022 - "Intravenous methylprednisolone is a potential add on therapy for Ring chromosome 20 syndrome."

Therapies and Procedures

1.	Therapeutics 06/01/2020 - "Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient-led approach." 11/01/2007 - "Here, we report a new case of r(20) syndrome in a 12 year old female who presented minimal dysmorphism, generalised tonic-clonic and absence seizures refractory to medical therapy and behavioural troubles. " 10/01/2002 - "We report a case of a 6-year old girl with ring chromosome 20 syndrome whose medically intractable seizures were successfully treated with vagal nerve stimulation therapy. " 03/01/2022 - "Intravenous methylprednisolone is a potential add on therapy for Ring chromosome 20 syndrome."
2.	Vagus Nerve Stimulation 01/01/2006 - "Epilepsy responds to vagus nerve stimulation in ring chromosome 20 syndrome." 10/01/2002 - "Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature." 10/01/2002 - "We report a case of a 6-year old girl with ring chromosome 20 syndrome whose medically intractable seizures were successfully treated with vagal nerve stimulation therapy. "
3.	Deep Brain Stimulation 06/16/2015 - "A 43-year-old woman who had had refractory epilepsy since the age of six years, for which she was treated with deep brain stimulation of the centromedian nucleus, and also a ring chromosome 20. "