Myoclonus epilepsy

Common Name(s)

Myoclonus epilepsy

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
 

Author(s): Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betul Baykan, Edith Said, Meral Topcu, Patrizia Riguzzi, Mary D King, Cigdem Ozkara, Danielle M Andrade, Bernt A Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J Espay, Birgit Kauffmann, Michael Duchowny, Rikke S Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben-Zeev, Kaitlin E Samocha, Mark J Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

Journal: Nat. Genet.. 2015 Jan;47(1):39-46.

 

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a ...

Last Updated: 30 Dec 2014

Go To URL
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

Go To URL
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
 

Author(s): Maurizio De Fusco, Riccardo Vago, Pasquale Striano, Carlo Di Bonaventura, Federico Zara, Davide Mei, Min Seuk Kim, Shmuel Muallem, Yunjia Chen, Qin Wang, Renzo Guerrini, Giorgio Casari

Journal: Ann. Neurol.. 2014 Jan;75(1):77-87.

 

Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by distal, fairly rhythmic myoclonus and epilepsy with variable severity. We have previously mapped the disease locus on chromosome 2p11.1-q12.2 by genome-wide linkage analysis. Additional pedigrees affected ...

Last Updated: 13 Feb 2014

Go To URL

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

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
 

Author(s): Paulo José Lorenzoni, Rosana Herminia Scola, Cláudia Suemi Kamoi Kay, Carlos Eduardo S Silvado, Lineu Cesar Werneck

Journal: Arq Neuropsiquiatr. 2014 Oct;72(10):803-11.

 

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features ...

Last Updated: 23 Oct 2014

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

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

Go to URL
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: 10 Jun 2015

Go to URL