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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Juvenile myoclonic epilepsy – Wikipedia

Clinical, electrophysiological studies and families investigations in 68 cases. Primary generalized epilepsy with sporadic myoclonias of myoclonic petit mal type. The onset of symptoms is generally around age although some patients can present in their 20s or even early 30s.

Other seizure types include those with either motor or non motor generalized onset. Benign adult familial myoclonic epilepsy BAFME is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very juvemile progressive disease course, and no signs of early dementia or cerebellar ataxia. This mutation affects GABAergic transmission by altering the surface expression of the receptor as well as reducing the channel — opening duration.

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

The mutations do not seem to alter the ability of the protein to colocalize with centrosomes and mitotic spindles but induce mitotic spindle defects.


Clinical, Experimental and Genetic Aspects. Clinical observations of juvenile myoclonic epilepsy in patients: Myoclonus usually appears around the same age as the cortical tremor and consists of erratic, myodlonique, segmental jerks of the upper limbs heightened by posture and action. The myoclonic jerks generally precede the generalized tonic-clonic seizures by several months. At an advanced age, a worsening of the myoclonus myoclobique possible as well as difficulty walking and mild ataxia.

The tremor consists of continuous, arrhythmic fine twitching in the hands that is exacerbated by fatigue or emotional stress.

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Kleveland G, Engelsen BA. This missense mutation results in channels with reduced peak GABA-evoked currents. Lamotrogine may induce exacerbation of generalised tonico-clonic seizures and myoclonic jerks in juvenile myoclonic epilepsy.

For all other comments, please send your remarks via contact us. Acta Neurol Scand ; The documents contained in this web site are presented for information purposes only. Clinical characteristics of idiopathic generalised epilepsy. Rare tonic-clonic seizures are also a manifestation of BAFME peak age of onset being 30occurring after the appearance of tremors and myoclonus and epipepsie precipitated by photic stimulation, emotional stress and sleep deprivation.

Juvenile myoclonic epilepsy

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In addition, a consanguineous Egyptian family with focal epilepsy, neuropsychiatric features, borderline cognitive level, and myoclonus, resembling BAFME myocllnique inherited in an juvenilr recessive manner was recently described. Specialised Social Services Eurordis directory.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Access to the text HTML. Hum Mol Genet ; 6: Exacerbation of tonicoclonic seizures in a juvenile myoclonic epileptic taking lamotrigine.

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epilesie 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. Juvenile myoclonic epilepsy is an inherited genetic syndrome, but the way in which this disorder is inherited is unclear.

BAFME is transmitted autosomal dominantly and penetrance is high. Lamotrigine is well-tolerated and secondary aggravation of epileptic syndromes has rarely been reported.

Patterns of juvenile myoclonic epilepsy in a Saudi population. Retrieved from ” https: