EPILEPSIE MYOCLONIQUE JUVENILE PDF

However, little is known about the long-term medical evolution of this clinical entity. The aim of this study was to analyze long-term outcome in a clinically well-defined series of patients with JME for seizure evolution and predictors of seizure outcome. Among the seizure-free patients, 28 We identified manifestation of additional absence seizures at onset of JME as an independent predictor of an unfavorable outcome regarding seizure freedom. Best management of juvenile myoclonic epilepsy JME over the long term is inherently challenging.

Author:Grora Fenrijin
Country:Grenada
Language:English (Spanish)
Genre:Sex
Published (Last):13 April 2019
Pages:226
PDF File Size:5.75 Mb
ePub File Size:3.34 Mb
ISBN:424-3-96790-599-4
Downloads:86065
Price:Free* [*Free Regsitration Required]
Uploader:Arashura



However, little is known about the long-term medical evolution of this clinical entity. The aim of this study was to analyze long-term outcome in a clinically well-defined series of patients with JME for seizure evolution and predictors of seizure outcome. Among the seizure-free patients, 28 We identified manifestation of additional absence seizures at onset of JME as an independent predictor of an unfavorable outcome regarding seizure freedom. Best management of juvenile myoclonic epilepsy JME over the long term is inherently challenging.

Since JME patients by definition have no underlying structural cause of epilepsy and have normal neurologic examinations, most risk factors for seizure recurrence do not apply in making the decision to stop antiseizure medication. Long-term observational studies or historical reviews are therefore imperative for revealing the natural course of the illness.

Only the persistent EEG abnormalities remind us that JME patients carry seizure risk with them as they do their own fingerprint, both patterns predestined by their DNA.

The current study reports on the outcome of 66 patients, at a single center, with JME whose seizure course was analyzed retrospectively for a minimum of 20 years and a median of 46 years. The presence of absence seizures at epilepsy onset was an adverse predictor for seizure freedom. A surprising finding was that primidone was quite effective, with 11 of 15 patients taking primidone monotherapy reported as seizure-free.

This demonstrates a treatment approach in this center that may deserve more broad geographic consideration. It was named for Janz after this date, however the name was changed to Juvenile Myoclonic Epilepsy by the International League Against Epilepsy in 3.

Prognosis is often included as part of a syndromic complex, but the long-term course of JME has never been very clear. With due respect to the Revised Terminology creators, the name JME contributes to a confounded perception of its prognosis. JME is not a pediatric epilepsy syndrome likely to remit with the passing of adolescence, but this is belied by its very nomenclature. The risk factors associated with seizure recurrence, which in turn influence the decision to continue treatment long term, are fairly straightforward.

They include structural lesions, neurologic disability, persistently abnormal EEGs, and a history of frequent or difficult to control seizures 4—6. These factors are also those that prompt initial treatment of seizures and are important for making an early diagnosis of epilepsy 7. They are intuitive and concrete and make sense to both the neurologist and the patient.

Discussing the risks for seizure occurrence with a patient may be hard, but understanding the prognostic factors makes the medication decisions relatively easy.

JME is thought to be a genetically imparted syndrome. Five JME genes have autosomal dominant inheritance. There are multiple susceptibility genes that participate in the genetic epistasis that produces JME, including malic enzyme 2, connexin 36, and bromodomain-containing 2, but many more are thought to be as yet unraveled 8.

The effect of epistasis is due to influences of multiple genes, in which the independent effect of the gene is subserved by the interaction between the genes.

The result, among other options, may be synergistic or completely opposite of the effect of one of the involved genes. This complexity accounts for the obscured inheritance patterns, which must be present in JME. How do we advise JME patients, with no family history, regarding their prognosis when their risk factors are locked in their DNA? The next question then is, Does guidance from risk factors make a difference in outcomes?

These rates of remission surely reflect interactions between external and internal factors: judicious management and the underlying severity spectrum of the epilepsies. Without the application of risk-factor consideration, the results would likely be worse. It aims to fill an important gap in our understanding of JME.

References 1. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, — Janz D, Christian W. Impulsiv-Petit mal. Genton P, Gelisse P. The history of juvenile myoclonic epilepsy. Epilepsy Behav. Specchio LM, Beghi E. Should antiepileptic drugs be withdrawn in seizure-free patients?

CNS Drugs. Berg AT, Shinnar S. Relapse following discontinuation of antiepileptic drugs: A meta-analysis. Lancet Neurol. The quest for juvenile myoclonic epilepsy genes.

Cordell HJ. Hum Mol Genet. Clinical predictors of the long-term social outcome and quality of life in juvenile myoclonic epilepsy: 20—65 years of follow-up [published online ahead of print January 13, ] Epilepsia. Epub Jan Kwan P, Sander JW. The natural history of epilepsy: An epidemiological view.

J Neurol Neurosurg Psychiatry. Likelihood of seizure remission in an adult population with refractory epilepsy. Ann Neurol.

KOMPENDIUM PILOTA WYCIECZEK KRUCZEK PDF

Treatment of Juvenile Myoclonic Epilepsy

Abstract Drug treatment of juvenile myoclonic epilepsy JME is mainly based on clinical experience and prospective and retrospective studies, with little evidence from randomized clinical trials. Valproate is the drug of the first choice in men with JME. In women, lamotrigine LTG should be preferred regarding teratogenicity and side effects of valproate. Levetiracetam LEV is also effective. Recent data suggest that it may soon be used as first line treatment. JME usually requires lifelong treatment because seizures nearly always return after withdrawal of therapy.

K7N2 DELTA2 PDF

Épilepsie myoclonique juvénile

.

APSRTC STUDENT BUS PASS APPLICATION FORM PDF

Épilepsies de l’enfant et de l’adulte

.

Related Articles