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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Am J Med Genet ; The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for eoilepsie or treatment. Access to the PDF text. Clinical characteristics of idiopathic generalised epilepsy. Check this box if you wish to receive a copy of your message. Top of the page – Article Outline. 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.

Juvenile myoclonic epilepsy locus in chromosome juuvenile JME and related syndromes: Summary and related texts. Electroencephalographic EEG findings include a photomyoclonic response along with abnormality of polyspikes and waves.


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. Juvenile myoclonic epilepsy is an inherited genetic syndrome, but the way in which this disorder is inherited is unclear. Myoclohique association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies.

If you are a subscriber, please sign in ‘My Account’ juveni,e the top right of the screen. Channelopathies Epilepsy types Syndromes. Epilepsia ; 40 suppl.

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Journal page Archives Contents list. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients.

Primary generalized epilepsy with sporadic myoclonias of myoclonic petit mal type. Monod, Saint-Herblain, Nantes Cedex 1. Kleveland G, Engelsen BA. Linkage analysis between idiopathic generalized epilepsies and the GABA A receptor alpha5, beta3 juvrnile gamma3 subunit gene cluster on chromosome The tremor consists of continuous, arrhythmic fine twitching in the hands that is exacerbated by fatigue or emotional stress.


Additional clinical juenile include seizures with either a motor tonic-clonic seizure or nonmotor absence seizure generalized onset.

These events typically occur either early in the morning or upon sleep deprivation. However a number of quantitative MRI studies have reported focal or regional abnormalities of the subcortical and cortical grey matter, particularly the thalamus and frontal cortex, in JME patients.

Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy. Diagnostic methods Diagnosis is based on clinical and electrophysiological findings.

Lamotrigine is an anti-epileptic drug considered as a first-line therapy in idiopathic generalised epilepsy. From Wikipedia, the free encyclopedia. Differential diagnosis BAFME juvenille be differentiated from epilepsy syndromes with prominent myoclonus features.

Juvenile myoclonic epilepsy

Proposal for revised classification of epilepsies and epileptic syndromes. However, JME differs clinically from BAFME by the absence of cortical tremor, the mainly proximal myoclonic jerks, and seizures typically occurring at awakening. Carbamazepine may aggravate genetic generalized epilepsies and as such its use should be avoided in JME.