Myoclonus epilepsy

Common Name(s)

Myoclonus epilepsy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myoclonus epilepsy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Myoclonus epilepsy" returned 75 free, full-text research articles on human participants. First 3 results:

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.
 

Author(s): Martje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, Jan Willem J Elting, Jeannette M Gelauff, Rodi Zutt, Deborah A Sival, Roald A Lambrechts, Marina A J Tijssen, Oebele F Brouwer, Tom J de Koning

Journal:

 

North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic ...

Last Updated: 31 Dec 1969

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Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus.
 

Author(s): Xin-Yue Zhang, Jin-Bei Yu, Dan Yang, Chun-Tao Han, Wei-Hong Lin

Journal: Chin. Med. J.. 2016 10;129(20):2508-2509.

 

Last Updated: 31 Dec 1969

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Progressive Myoclonus Epilepsy: The Gene-Empowered Era.
 

Author(s): Berge A Minassian, Pasquale Striano, Giuliano Avanzini

Journal: Epileptic Disord. 2016 Sep;18(S2):1-2.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Myoclonus epilepsy" returned 9 free, full-text review articles on human participants. First 3 results:

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
 

Author(s): Roberta Opri, Gian Maria Fabrizi, Gaetano Cantalupo, Moreno Ferrarini, Alessandro Simonati, Bernardo Dalla Bernardina, Francesca Darra

Journal: Seizure. 2016 Nov;42():1-6.

 

A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized ...

Last Updated: 31 Dec 1969

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Post-modern therapeutic approaches for progressive myoclonus epilepsy.
 

Author(s): Berge A Minassian

Journal: Epileptic Disord. 2016 Sep;18(S2):154-158.

 

While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies ...

Last Updated: 31 Dec 1969

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[Myoclonus epilepsy with ragged-red fibers: a case report and literature review].
 

Author(s): Man-man Zhao, Yao Zhang, Xin-hua Bao

Journal: Beijing Da Xue Xue Bao. 2015 Dec;47(6):1034-6.

 

To demonstrate the clinical manifestation, diagnosis and treatment of myoclonus epilepsy with ragged-red-fibers (MERRF), a case of MERRF was presented with review of the literature. A 4-year-7-month-old girl was diagnosed with MERRF. She had tremor, fatigue and developmental delay ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Characterization of Movement Disorders and Dementias
 

Status: Recruiting

Condition Summary: Ataxia; Dystonia; Parkinson's Disease; Amyotrophic Lateral Sclerosis; Corticobasal Degeneration; Multiple System Atrophy; Alzheimer's Disease; Lewy Body Dementia; Parkinson Disease-Dementia; Dentatorubral-pallidoluysian Atrophy; Creutzfeldt-Jakob Disease and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbe's Disease; Niemann-Pick Disease, Type C; Neuronal Ceroid Lipofuscinosis

 

Last Updated: 28 Sep 2017

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 21 Aug 2017

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