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 50 free, full-text research articles on human participants. First 3 results:

Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype.
 

Author(s): Ramshekhar N Menon, Sujith Jagtap, Ravindra Thakkar, Gayathri Narayanappa, Muralidharan Nair

Journal: Neurol India. ;61(5):537-9.

 

Last Updated: 22 Nov 2013

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Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.
 

Author(s): Gábor Zsurka, Felicitas Becker, Markus Heinen, Hans-Jürgen Gdynia, Holger Lerche, Wolfram S Kunz, Yvonne G Weber

Journal: Seizure. 2013 Jul;22(6):483-6.

 

The group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form. The underlying genetic defect in most patients with ...

Last Updated: 12 Jun 2013

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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
 

Author(s): Lysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, Rikke S Møller, Annemarie M Vlaar, Kari M Aaberg, Iris Marquardt, Luke C Gandolfo, Michèl Willemsen, Erik-Jan Kamsteeg, John D O'Sullivan, G Christoph Korenke, Bastiaan R Bloem, Irenaeus F de Coo, Judith M A Verhagen, Ines Said, Trine Prescott, Asbjørg Stray-Pedersen, Magnhild Rasmussen, Danya F Vears, Anna-Elina Lehesjoki, Mark A Corbett, Melanie Bahlo, Jozef Gecz, Leanne M Dibbens, Samuel F Berkovic

Journal: Brain. 2013 Apr;136(Pt 4):1146-54.

 

We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype in 12 patients with GOSR2 mutations, including ...

Last Updated: 3 Apr 2013

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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 4 free, full-text review articles on human participants. First 3 results:

Deciphering the role of malin in the lafora progressive myoclonus epilepsy.
 

Author(s): Carlos Romá-Mateo, Pascual Sanz, Matthew S Gentry

Journal: IUBMB Life. 2012 Oct;64(10):801-8.

 

Lafora disease (LD) is a fatal, autosomal recessive neurodegenerative disorder that results in progressive myoclonus epilepsy. A hallmark of LD is the accumulation of insoluble, aberrant glycogen-like structures called Lafora bodies. LD is caused by mutations in the gene encoding ...

Last Updated: 25 Sep 2012

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Refractory coeliac disease associated with late onset epilepsy, ataxia, tremor and progressive myoclonus with giant cortical evoked potentials--a case report and review of literature.
 

Author(s): Saqib Javed, Asimah Safdar, Allan Forster, Arul Selvan, David Chadwick, Andy Nicholson, Anu Jacob

Journal: Seizure. 2012 Jul;21(6):482-5.

 

Population-based screening studies suggest an overall prevalence of coeliac disease in Western populations of about 1%. A variety of neurological problems have been associated with coeliac disease occurring in up to 10% of cases of adult coeliac disease. We report an interesting case ...

Last Updated: 15 Jun 2012

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Molecular background of progressive myoclonus epilepsy.
 

Author(s): Anna-Elina Lehesjoki

Journal: EMBO J.. 2003 Jul;22(14):3473-8.

 

Research on human inherited diseases provides a powerful tool to identify an intrinsically important subset of genes vital to healthy functioning of the organism. Progressive myoclonus epilepsies (PMEs) are a group of rare inherited disorders characterized by the association of epilepsy, ...

Last Updated: 10 Jul 2003

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Physical Exercise in Subjects With Juvenile Myoclonic Epilepsy
 

Status: Recruiting

Condition Summary: Epilepsy; Epilepsia; Epileptic Seizures; Seizure Disorder

 

Last Updated: 9 Oct 2011

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Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Inherited Mitochondrial Disease, Including Leigh Syndrome

 

Last Updated: 2 Jul 2014

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