Rosanna Chifari

GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy

Background: Dysfunction of γ-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.

A New Benign Adult Familial Myoclonic Epilepsy (BAFME) Pedigree Suggesting Linkage to Chromosome 2p11.1‐q12.2

Summary:  Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant condition characterized by cortical tremor and generalized seizures, mapped on chromosome 8q24 by Japanese authors. Recently the same phenotype also was reported in European families, with linkage on chromosome 2. We present a new family with suggestion of linkage to chromosome 2p11.1‐2q12.2 (lod score value, 1.55). This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1‐q12.2.

Levetiracetam: an improvement of attention and of oral fluency in patients with partial epilepsy.

PURPOSE The aim of the present study is to verify whether patients with partial epilepsy receiving levetiracetam (LEV) as an add-on treatment show an improvement in cognitive function. METHODS A neuropsychological battery of tests was administered to 35 patients with partial epilepsy before the assumption of LEV and after the achievement of the therapeutical dose of this drug, 7 weeks later. A control group of 35 patients with partial epilepsy was administered the same battery of tests twice, at the same time interval as the LEV group. The controls were administered the same pharmacological treatment, which did not include LEV in either of the two sessions. RESULTS We found a statistically significant improvement in cognitive functioning, i.e. in attention and oral fluency, in patients receiving LEV compared to the controls. The responders to LEV were 28.6%. CONCLUSIONS LEV as an add-on therapy improved attention level and verbal fluency in our sample of patients with partial epilepsy. It is reasonable to assume that LEV may influence the metabolism of attention and of language area, as already suggested for piracetam (PIR) from which LEV derives. Further studies are needed to confirm these findings.

ApoE Epsilon4 allele and disease duration affect verbal learning in mild temporal lobe epilepsy

Summary:  Purpose: To clarify the possible role of other factors including the ApoE ɛ4 allele for memory decline in temporal lobe epilepsy (TLE).

Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy

Summary:  Objectives: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.

Electroclinical Features of a Family with Simple Febrile Seizures and Temporal Lobe Epilepsy Associated with SCN1A Loss‐of‐Function Mutation

Summary:  Purpose: To report in detail the electroclinical features of a large family in which we recently identified a missense mutation (M145T) of a well‐conserved amino acid in the first transmembrane segment of domain I of the human SCN1A. We showed that the mutation is associated with a loss of SCN1A function.

Attention and psychomotor speed decline in patients with temporal lobe epilepsy: A longitudinal study

PURPOSE To assess the possible cognitive alterations in epilepsy patients compared with controls over 5 years, and to investigate the clinical variables mainly implied in mental impairment. METHODS In our longitudinal single-center study, 50 patients with temporal lobe epilepsy (TLE) and 50 controls were administered the same battery of comprehensive neuropsychological tests at baseline and after 5 years. RESULTS TLE patients showed a significant impairment in attention and psychomotor speed compared with controls after 5 years, while the other cognitive domains did not exhibit any important changes. This worsening was mainly related to the duration of epilepsy, the age at onset, a history of tonic-clonic seizures and a low educational level. CONCLUSIONS We believe that tapping the attention and psychomotor speed decline in TLE patients should be considered relevant for future research, in order to achieve a deeper understanding of the cognitive dimensions of this field.

Prodynorphin Gene Promoter Polymorphism and Temporal Lobe Epilepsy

∗†Antonio Gambardella, †Ida Manna, ∗†Angelo Labate, ‡Rosanna Chifari, †Paolo Serra, †Antonella La Russa, §Emilio LePiane, †Rita Cittadella, †Virginia Andreoli, §Francesco Sasanelli, ∗†Mario Zappia, §Umberto Aguglia, and ∗†Aldo Quattrone ∗Institute of Neurology, School of Medicine, Catanzaro; †Institute of Neurological Sciences, National Research Council, Cosenza; ‡Clinic of Neurology, Hospital of Melegnano, Milan; and §Regional Epilepsy Centre, Hospital of Reggio Calabria, Italy

Elderly People and Epilepsy: Cognitive Function

Summary:  Purpose: To evaluate cognitive function in a group of elderly patients with focal epilepsy versus healthy controls.

Postpartum depression in women with epilepsy versus women without epilepsy

The goal of this study was to determine if there is a significant difference in the rate of postpartum depression among patients with epilepsy and healthy controls. All patients were recruited from the Epilepsy Center and the Department of Obstetrics and Gynecology, University of Milan, St. Paolo Hospital (Milan, Italy). Thirty-five pregnant women with epilepsy and an equal number of pregnant women without epilepsy were assessed with the Edinburgh Postnatal Depression Scale (EPDS), a clinical interview used to screen for postpartum depression (PPD), and a sociodemographic questionnaire. The rate of PPD in patients with epilepsy was statistically significantly higher than that of the controls (P<0.05). PPD was present in 29% of the patients with epilepsy and 11% of the controls. In conclusion, it is very important to point out that in our pilot study, the rate of PPD was higher among women with epilepsy than among women without epilepsy. In this regard, women at higher PPD risk can be identified earlier and treated as soon as possible to alleviate their symptoms and improve their quality of life.