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

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
 

Author(s): John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard J H Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

Journal: Hum. Mol. Genet.. 2015 Aug;24(16):4483-90.

 

We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated ...

Last Updated: 24 Jul 2015

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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

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Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
 

Author(s): Sali M K Farhan, Lisa M Murphy, John F Robinson, Jian Wang, Victoria M Siu, C Anthony Rupar, Asuri N Prasad, , Robert A Hegele

Journal: Epilepsia. 2014 Sep;55(9):e106-11.

 

Epilepsy affects approximately 1% of the world's population. Genetic factors and acquired etiologies, as well as a range of environmental triggers, together contribute to epileptogenesis. We have identified a family with three daughters affected with progressive myoclonus epilepsy ...

Last Updated: 16 Sep 2014

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

[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: 18 Dec 2015

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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

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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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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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