La maladie d’Unverricht-Lundborg (MUL) est une épilepsie myoclonique caractérisée par la survenue, chez le grand enfant ou le jeune adolescent, de crises. BAFME must be differentiated from epilepsy syndromes with prominent myoclonus features. Patients may easily be misdiagnosed as having juvenile myoclonic. Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of generalized epilepsy of presumed genetic origin representing.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Janz D, Durner M. However, JME differs clinically from BAFME by the absence of cortical tremor, the mainly proximal myoclonic jerks, and seizures typically occurring at awakening.

Juvenile myoclonic epilepsy – Wikipedia

Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of juvenilw chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies.

These are brief episodes of involuntary muscle contractions occurring early in the morning or shortly before falling asleep. The primary diagnosis for JME is a good knowledge of patient history and the neurologist’s familiarity with the myoclonic jerks, which are the hallmark of the jkvenile. The documents contained in this web site are presented for information purposes only. Top of the page – Article Outline.


Access to the PDF text. The final known associated gene is EFHC1. A controlled clinical and electroencephalographic study of myoclonic epilepsy Impulsiv-Petit mal. Juvenile myoclonic epilepsy of Janz: You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted.

Myoclonus usually appears around the same age as the cortical tremor and consists of erratic, arrhythmic, segmental jerks of the upper limbs heightened by posture and action. Benign adult familial myoclonic epilepsy BAFME is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal eppilepsie with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

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John Libbey Eurotext – Epilepsies – Aspects génétiques de l’épilepsie myoclonique juvénile

Features of juvenile myoclonic epilepsy. This page was last edited on 8 Decemberat Other seizure types include juvenipe with either motor or non motor generalized onset. Management and epiepsie Cortical tremor unlike essential tremor usually has a poor response to beta blockers but improves with antiepileptic drugs.

Jerk-locked average analysis reveals positive-negative, biphasic spikes preceding myoclonus. If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Infobox medical condition new.


Exacerbation of tonicoclonic seizures in a juvenile myoclonic epileptic taking lamotrigine. Genetic counseling is possible when a family member has the disease and presymptomatic diagnosis may be done in young patients from families mapped on any of the 3 loci, based on electrophysiological findings.

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Higher risk of seizures in offspring of mothers than of fathers with epilepsy. Epilepsy juveni,e, Juvenile myoclonic epilepsyLamotrigine. They are more common in the arms than in the legs and may result in dropping objects.

Am J Hum Genet. By using this site, you agree to the Terms of Use and Privacy Policy. Obeid T, Panayiotopoulos CP.

Juvenile myoclonic epilepsy

Maternal and paternal transmission of juvenile myoclonic epilepsy and non-JME idiopathic generalized epilepsy. From Wikipedia, the free encyclopedia. On the genetics of primary generalized epilepsy with sporadic myoclonias, or myockonique petit mal: Myoclonic jerks may as well appear in clusters.

Rogawsky, M, Noebels, JL, ed.