juvenile myoclonic epilepsy
Janz syndrome

It has been suggested that juvenile myoclonic epilepsy may be a ciliopathy.

In juvenile myoclonic epilepsy, seizures usually involve the neck, shoulders, and upper arms.

Herpin is also credited for his comprehensive description of juvenile myoclonic epilepsy.

By 1984, valproic acid was the drug of choice for juvenile myoclonic epilepsy and not the equally effective primidone.

These patients can present with an overlapping phenotype of ataxia and seizures similar to juvenile myoclonic epilepsy.

Delayed diagnosis of juvenile myoclonic epilepsy.

It was also used by Janz in the 1950s for Juvenile Myoclonic Epilepsy.

In fact, juvenile myoclonic epilepsy and EA5 are allelic and produce proteins with similar dysfunction.

Some people who experience these seizures have Juvenile Myoclonic Epilepsy and in these cases there is often a family history of a similar condition.

The early symptoms of ULD are general and in many cases similar to other more common epilepsies, such as juvenile myoclonic epilepsy.

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

Juvenile myoclonic epilepsy (JME)

Felbamate was the most effective for Lennox-Gastaut syndrome and was seen as a second-line agent in juvenile myoclonic epilepsy after valproate.

Juvenile myoclonic epilepsy JME usually consists of jerking and muscle twitches of the upper extremities.

Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy that occurs in patients aged 8 to 20 years.

The name Juvenile Myoclonic Epilepsy was proposed in 1975 and adopted by the International League Against Epilepsy.

Family studies of the more common epilepsies such as juvenile myoclonic epilepsy and absence epilepsies have resulted in better understanding of the complexities of their genetics.

In the early stages, it can be difficult to distinguish progressive myoclonic epilepsy from benign idiopathic generalised epilepsies, such as juvenile myoclonic epilepsy.

This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia.

This paper reports the identification of a gene underlying juvenile myoclonic epilepsy (JME)--a first for one of the 'classical' epilepsy syndromes.

Both juvenile myoclonic epilepsy and EA5 are a result of mutations in CACNB4, a gene that encodes the calcium channel β subunit.

For example, a second study at the International Congress of Epilepsy associated divalproex sodium with almost complete suppression of juvenile myoclonic epilepsy (JME).

Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME).

Category III includes fragile X syndrome, myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia.

These syndromes are childhood absence epilepsy, epilepsy with myoclonic absences, juvenile absence epilepsy and juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic generalized epilepsy, representing 5-10% of all epilepsy cases.