Gene defects in progressive myoclonus epilepsy

José M. Serratosa, Berge A. Minassian, Subramaniam Ganesh

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).

Original languageEnglish (US)
Number of pages1
JournalEpilepsia
Volume51
Issue numberSUPPL. 5
DOIs
StatePublished - Dec 1 2010

Fingerprint

Progressive Myoclonic Epilepsy
Genes
MERRF Syndrome
Lafora Disease
National Library of Medicine (U.S.)
Myoclonic Epilepsy
Transfer RNA
Mitochondrial DNA
Molecular Biology
Epilepsy

Keywords

  • Animal models
  • DRPLA
  • Lafora
  • Mitochondria
  • Molecular diagnosis
  • Neurodegeneration
  • Respiratory chain
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Gene defects in progressive myoclonus epilepsy. / Serratosa, José M.; Minassian, Berge A.; Ganesh, Subramaniam.

In: Epilepsia, Vol. 51, No. SUPPL. 5, 01.12.2010.

Research output: Contribution to journalArticle

Serratosa, José M. ; Minassian, Berge A. ; Ganesh, Subramaniam. / Gene defects in progressive myoclonus epilepsy. In: Epilepsia. 2010 ; Vol. 51, No. SUPPL. 5.
@article{fd8ded5957f6448fac9cef72e2cf1cd1,
title = "Gene defects in progressive myoclonus epilepsy",
abstract = "Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).",
keywords = "Animal models, DRPLA, Lafora, Mitochondria, Molecular diagnosis, Neurodegeneration, Respiratory chain, Seizures",
author = "Serratosa, {Jos{\'e} M.} and Minassian, {Berge A.} and Subramaniam Ganesh",
year = "2010",
month = "12",
day = "1",
doi = "10.1111/j.1528-1167.2010.02861.x",
language = "English (US)",
volume = "51",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell",
number = "SUPPL. 5",

}

TY - JOUR

T1 - Gene defects in progressive myoclonus epilepsy

AU - Serratosa, José M.

AU - Minassian, Berge A.

AU - Ganesh, Subramaniam

PY - 2010/12/1

Y1 - 2010/12/1

N2 - Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).

AB - Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).

KW - Animal models

KW - DRPLA

KW - Lafora

KW - Mitochondria

KW - Molecular diagnosis

KW - Neurodegeneration

KW - Respiratory chain

KW - Seizures

UR - http://www.scopus.com/inward/record.url?scp=78650389589&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78650389589&partnerID=8YFLogxK

U2 - 10.1111/j.1528-1167.2010.02861.x

DO - 10.1111/j.1528-1167.2010.02861.x

M3 - Article

AN - SCOPUS:78650389589

VL - 51

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - SUPPL. 5

ER -