OBJECTIVE Patients with juvenile myoclonic epilepsy (JME) often present with risk-taking behavior, suggestive of frontal lobe dysfunction. Recent studies confirm functional and microstructural changes within the frontal lobes in JME. This study aimed at characterizing decision-making behavior in JME and its neuronal correlates using functional magnetic resonance imaging (fMRI). METHODS We inv...

The interplay of multiple genetic factors, as opposed to monogenic inheritance, is suspected to play a role in many idiopathic generalized epilepsies. This leads to a digenic or oligogenic inheritance model, which although rather simplified, may explain at least some of the clinical observations. Here we describe a family in which the clinical phenotype in the offspring can be explained by a co...

The idiopathic generalized epilepsies (IGE) occur with a high aggregation within families. Juvenile myoclonic epilepsy (JME) is recognized as a commonly occurring form of idiopathic generalized epilepsy. A possible association between JME and HLA antigens was investigated by serological typing of human leukocyte antigens (HLA) class I antigens and by DNA oligotyping of class II antigens. Twenty...

BACKGROUND AND PURPOSE Cognitive impairments are frequent consequences of epilepsy, with intellectual ability reportedly being lower in patients with idiopathic generalized epilepsies than in the general population. However, neuropsychological investigations have been rarely performed in patients with juvenile myoclonic epilepsy (JME). We aimed to quantify the cognitive function in JME patients...

Currently valproic acid is considered to be the drug of first choice for juvenile myoclonic epilepsy (JME) resulting in a 70-90% control rate for all seizure types associated with JME. In those situations where valproic acid fails to control seizure activity, results in unacceptable side-effects, or is declined due to potential side-effects, an alternative effective monotherapy would be desirab...

It is not known whether patients with juvenile myoclonic epilepsy (JME) differ from healthy people in decision making under risk, i.e., when the decision-making context offers explicit information about options, probabilities, and consequences already from the beginning. In this study, we adopted the Game of Dice Task-Double to investigate decision making under risk in a group of 36 patients wi...

Of 1300 epileptic patients 76 (5.8%) were found to have juvenile myoclonic epilepsy (JME). These 76 patients were examined at the epilepsy outpatient clinic of Bakirköy State Hospital for Neurological and Psychiatric Diseases between 1991 and 1996 and data obtained were analysed retrospectively. Clinically typical absence seizures were reported in 40.8%, myoclonic jerks in 100%, and generalized...

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy Ausência de associação entre o polimorfismo G20210A (rs1799963) da protrombina e epilepsia mioclônica juvenil João Paulo Lopes Born1, Bruna Priscila dos Santos1, Rodrigo Secolin2, Fernando Tenório Gameleira3, Tiago Gomes de Andrade3, Luciana Cláudia Herculano Machado4, Lívia Leite Góes Gitaí5, Dan...

Fifteen cases of juvenile myoclonic epilepsy (JME) were identified from one hundred and eighty consecutive patients referred to a new epilepsy clinic at St Thomas' Hospital between April 1989 and December 1990, a prevalence of 8.3%. Of these, only one was referred with a putative diagnosis of JME. Diagnosis of the other patients on referral included "epilepsy", "grand mal", "temporal lobe epile...

Various mo]ccules may tLct as an ttcceptor. but lcvans, hexoses and water are highly rcactive. Most studies on ]evansucrases havc been done in Ba('iUus subtilis. Chambert c,t ai,"'2i have invcstigated the mechanism of the transfructosylation proccss. Petit-Glatron et al.]) have characterized a mucromo]ecular inactive form of leN,ansucrase. LcBrun et aL4} prescnted the tcrtiary structure or the ...