Skip to main content
PMC home page
Postgraduate Medical Journal logoLink to Postgraduate Medical Journal
. 2003 Feb;79(928):78–80. doi: 10.1136/pmj.79.928.78

Juvenile myoclonic epilepsy: under-appreciated and under-diagnosed

R Renganathan 1, N Delanty 1
PMCID: PMC1742603  PMID: 12612320

Abstract

Juvenile myoclonic epilepsy (JME) is a hereditary, idiopathic, generalised epilepsy and is found in 5%–11% of patients with epilepsy. It is characterised by myoclonic jerks, occasional generalised tonic-clonic seizures, and sometimes absence seizures. JME continues to be under-appreciated and under-diagnosed. Accurate diagnosis is important as it usually responds well to treatment with appropriate anticonvulsants and misdiagnosis often results in unnecessary morbidity. In addition lifelong therapy is usually indicated as the natural history is one of relapse off treatment, even after a prolonged seizure-free period.

Full Text

The Full Text of this article is available as a PDF (46.1 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aliberti V., Grünewald R. A., Panayiotopoulos C. P., Chroni E. Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. Epilepsia. 1994 Mar-Apr;35(2):297–301. doi: 10.1111/j.1528-1157.1994.tb02433.x. [DOI] [PubMed] [Google Scholar]
  2. Biraben A., Allain H., Scarabin J. M., Schück S., Edan G. Exacerbation of juvenile myoclonic epilepsy with lamotrigine. Neurology. 2000 Dec 12;55(11):1758–1758. doi: 10.1212/wnl.55.11.1757. [DOI] [PubMed] [Google Scholar]
  3. Biton V., Montouris G. D., Ritter F., Riviello J. J., Reife R., Lim P., Pledger G. A randomized, placebo-controlled study of topiramate in primary generalized tonic-clonic seizures. Topiramate YTC Study Group. Neurology. 1999 Apr 22;52(7):1330–1337. doi: 10.1212/wnl.52.7.1330. [DOI] [PubMed] [Google Scholar]
  4. Buchanan N. The use of lamotrigine in juvenile myoclonic epilepsy. Seizure. 1996 Jun;5(2):149–151. doi: 10.1016/s1059-1311(96)80110-5. [DOI] [PubMed] [Google Scholar]
  5. Durner M., Shinnar S., Resor S. R., Moshe S. L., Rosenbaum D., Cohen J., Harden C., Kang H., Hertz S., Wallace S. No evidence for a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Am J Med Genet. 2000 Feb 7;96(1):49–52. doi: 10.1002/(sici)1096-8628(20000207)96:1<49::aid-ajmg10>3.0.co;2-j. [DOI] [PubMed] [Google Scholar]
  6. Gelisse P., Genton P., Thomas P., Rey M., Samuelian J. C., Dravet C. Clinical factors of drug resistance in juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 2001 Feb;70(2):240–243. doi: 10.1136/jnnp.70.2.240. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Genton P., Gelisse P. Juvenile myoclonic epilepsy. Arch Neurol. 2001 Sep;58(9):1487–1490. doi: 10.1001/archneur.58.9.1487. [DOI] [PubMed] [Google Scholar]
  8. Genton P., Gelisse P., Thomas P., Dravet C. Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy? Neurology. 2000 Oct 24;55(8):1106–1109. doi: 10.1212/wnl.55.8.1106. [DOI] [PubMed] [Google Scholar]
  9. Grünewald R. A., Chroni E., Panayiotopoulos C. P. Delayed diagnosis of juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry. 1992 Jun;55(6):497–499. doi: 10.1136/jnnp.55.6.497. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Krsek P., Mikulecká A., Druga R., Hlinák Z., Kubová H., Mares P. An animal model of nonconvulsive status epilepticus: a contribution to clinical controversies. Epilepsia. 2001 Feb;42(2):171–180. doi: 10.1046/j.1528-1157.2001.35799.x. [DOI] [PubMed] [Google Scholar]
  11. Lancman M. E., Asconapé J. J., Penry J. K. Clinical and EEG asymmetries in juvenile myoclonic epilepsy. Epilepsia. 1994 Mar-Apr;35(2):302–306. doi: 10.1111/j.1528-1157.1994.tb02434.x. [DOI] [PubMed] [Google Scholar]
  12. Meencke H. J., Janz D. The significance of microdysgenesia in primary generalized epilepsy: an answer to the considerations of Lyon and Gastaut. Epilepsia. 1985 Jul-Aug;26(4):368–371. doi: 10.1111/j.1528-1157.1985.tb05665.x. [DOI] [PubMed] [Google Scholar]
  13. Panayiotopoulos C. P., Obeid T., Tahan A. R. Juvenile myoclonic epilepsy: a 5-year prospective study. Epilepsia. 1994 Mar-Apr;35(2):285–296. doi: 10.1111/j.1528-1157.1994.tb02432.x. [DOI] [PubMed] [Google Scholar]
  14. Salas-Puig J., Tuñon A., Diaz M., Lahoz C. H. Somatosensory evoked potentials in juvenile myoclonic epilepsy. Epilepsia. 1992 May-Jun;33(3):527–530. doi: 10.1111/j.1528-1157.1992.tb01704.x. [DOI] [PubMed] [Google Scholar]
  15. Sander T., Bockenkamp B., Hildmann T., Blasczyk R., Kretz R., Wienker T. F., Volz A., Schmitz B., Beck-Mannagetta G., Riess O. Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6. Neurology. 1997 Sep;49(3):842–847. doi: 10.1212/wnl.49.3.842. [DOI] [PubMed] [Google Scholar]
  16. Savic I., Lekvall A., Greitz D., Helms G. MR spectroscopy shows reduced frontal lobe concentrations of N-acetyl aspartate in patients with juvenile myoclonic epilepsy. Epilepsia. 2000 Mar;41(3):290–296. doi: 10.1111/j.1528-1157.2000.tb00158.x. [DOI] [PubMed] [Google Scholar]
  17. Swartz B. E., Simpkins F., Halgren E., Mandelkern M., Brown C., Krisdakumtorn T., Gee M. Visual working memory in primary generalized epilepsy: an 18FDG-PET study. Neurology. 1996 Nov;47(5):1203–1212. doi: 10.1212/wnl.47.5.1203. [DOI] [PubMed] [Google Scholar]
  18. Woermann F. G., Free S. L., Koepp M. J., Sisodiya S. M., Duncan J. S. Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain. 1999 Nov;122(Pt 11):2101–2108. doi: 10.1093/brain/122.11.2101. [DOI] [PubMed] [Google Scholar]

Articles from Postgraduate Medical Journal are provided here courtesy of BMJ Publishing Group

RESOURCES