Both juvenile myoclonic epilepsy and EA5 are a result of mutations in CACNB4, a gene that encodes the calcium channel ? 4 subunit.
12.
In my experience with myoclonic epilepsy, the class was psychology students, not neurologists, and the " expert " wasn't.
13.
Felbamate was the most effective for Lennox-Gastaut syndrome and was seen as a second-line agent in juvenile myoclonic epilepsy after valproate.
14.
Category III includes fragile X syndrome, myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia.
15.
Mutations in the " MT-TK " gene are associated with myoclonic epilepsy and ragged-red fiber disease ( MERRF ).
16.
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.
17.
In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3, a homozygous nonsense mutation in the KCTD7 gene ( R99X ) has been identified.
18.
Six specific disorders comprise the most common causes of progressive myoclonic epilepsy : dentatorubropallidoluysian atrophy ( DRPLA ); the noninfantile neuronopathic form of Gaucher disease; and atypical inclusion body disease.
19.
In 2 Mexican siblings with infantile onset of progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, a homozygous mutation in the KCTD7 gene ( R184C ) has been identified.
20.
Also known as Janz syndrome, juvenile myoclonic epilepsy ( JME ) is a common form of epilepsy, accounting for ~ 10 % of all cases and ~ 25 % of cases of idiopathic generalized epilepsies.
