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1.
Neurol Sci ; 27(5): 340-4, 2006 Nov.
Article in English | MEDLINE | ID: mdl-17122944

ABSTRACT

The aim of the present paper was to describe some formative projects on work integration of patients with epilepsy and mild cognitive deficits, so that similar initiatives may be promoted. The different phases of the formative projects were described: the inclusion criteria, the selection of participants, the assessment instruments, the courses themselves and the final results in terms of working experience. Thirteen participants were selected for each course. Patients were treated in different Lombardy Epilepsy departments, which addressed them to the Epilepsy Center, S. Paolo Hospital, Milan, where the selection took place. Seventy percent of the participants in the formative courses found a job in 1 year, even though most of the positions were temporary. The work integration seemed to be mainly related to the level of intelligence and to verbal memory. We stress the importance of organising similar courses in the future, in the context of wider networks. This will help more patients in acquiring both economic and psychological autonomy from their families.


Subject(s)
Cognition Disorders/etiology , Educational Measurement , Epilepsy/physiopathology , Epilepsy/psychology , Program Evaluation , Adult , Epilepsy/epidemiology , Female , Humans , Italy/epidemiology , Male , Neuropsychological Tests/statistics & numerical data
2.
Acta Neurol Scand ; 109(3): 232-5, 2004 Mar.
Article in English | MEDLINE | ID: mdl-14763964

ABSTRACT

We report on two siblings who presented with juvenile myoclonic epilepsy, and in whom myoclonic jerks of the right arm and hand were also triggered by writing tasks. Both patients underwent intensive video-electroencephalography monitoring, with simultaneous neuropsychological tests. In both patients, reflex epileptic myoclonus was more easily triggered by writing that required a higher degree of concentration. Conversely, other cognitive tasks, such as reading, typing, thinking, or calculation never elicited any seizures or myoclonus. Valproate was effective in controlling both spontaneous and reflex epileptic seizures. The results of this study further support the notion that 'praxis-induced' reflex epilepsy precipitated by specific stimuli occurs in the context of idiopathic generalized epilepsy. Our results also illustrate that writing tasks are more effective in eliciting seizures when they require higher levels of concentration and mental elaboration.


Subject(s)
Epilepsy, Reflex/genetics , Myoclonic Epilepsy, Juvenile/genetics , Adolescent , Adult , Anticonvulsants/therapeutic use , Attention/physiology , Electroencephalography/drug effects , Epilepsy, Reflex/diagnosis , Epilepsy, Reflex/drug therapy , Epilepsy, Reflex/physiopathology , Evoked Potentials/drug effects , Evoked Potentials/physiology , Female , Handwriting , Humans , Myoclonic Epilepsy, Juvenile/diagnosis , Myoclonic Epilepsy, Juvenile/drug therapy , Myoclonic Epilepsy, Juvenile/physiopathology , Neuropsychological Tests , Parietal Lobe/drug effects , Parietal Lobe/physiopathology , Psychomotor Performance/physiology , Temporal Lobe/drug effects , Temporal Lobe/physiopathology , Treatment Outcome , Valproic Acid/therapeutic use , Video Recording
3.
Neurology ; 60(4): 560-3, 2003 Feb 25.
Article in English | MEDLINE | ID: mdl-12601092

ABSTRACT

BACKGROUND: Dysfunction of gamma-aminobutyric acid (GABA) (B) receptors has been implicated in the pathogenesis of temporal lobe epilepsy (TLE). OBJECTIVE: To evaluate the genetic contribution of cloned human GABA(B) receptors to TLE. METHODS: The authors genotyped 141 patients (78 women and 63 men; mean age = 49.1 +/- 18.0 years) with nonlesional TLE and 372 age- and sex-matched normal individuals for the known polymorphism G1465A in the human GABA(B) receptor 1 [GABA(B[1])] gene. RESULTS: There was a highly significant overrepresentation of the G1465A heterozygote in patients with TLE compared with controls. The A/G genotype was found in 17% of the 141 patients with TLE and in only 0.5% of the 372 controls (p < 0.0001). The authors also found that patients carrying the A allele had a significantly higher risk (p = 0.003, OR = 6.47, 95% CI = 2.02 to 20.76) of developing drug-resistant TLE. Furthermore, the age at onset of seizures tended to be lower in patients with A/G genotype, but the difference was not significant. CONCLUSIONS: The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. Moreover, it seems to influence the severity of this common epileptic disorder.


Subject(s)
Epilepsy, Temporal Lobe/genetics , Genetic Predisposition to Disease , Polymorphism, Genetic , Receptors, GABA-B/genetics , Age of Onset , Female , Gene Frequency , Genotype , Heterozygote , Humans , Male , Middle Aged , Odds Ratio , Risk Assessment
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