Aglaia Vignoli

Malformations in Offspring of Women with Epilepsy: A Prospective Study

Summary: Purpose: The incidence of malformations among infants of mothers with epilepsy treated with antiepileptic drugs (AEDs) during pregnancy is higher than that found in the general population. The aim of this study was to contribute to providing a definition of the rate of congenital anomalies in the offspring of mothers with epilepsy and to detect possible risk factors.

Frontal cognitive dysfunction in juvenile myoclonic epilepsy

Purpose: The aim of the present study was to investigate the possible frontal cognitive dysfunction in patients with juvenile myoclonic epilepsy (JME) and to compare the results with those of patients with frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE), as well as with controls.

Chromosome 20 Ring : A Chromosomal Disorder Associated with a Particular Electroclinical Pattern

Summary: Purpose: The chromosome 20 ring [r(20)] is a rare chromosomal disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20).

Epilepsy in Rett syndrome: clinical and genetic features.

Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes. The frequency of epilepsy was 79%. Drug-resistant epilepsy occurred in 30% of all our patients with Rett syndrome and in 38% of those with epilepsy. Our findings demonstrate that epilepsy differs among the various phenotypes and genotypes with respect to age at onset, drug responsiveness, and seizure semiology. The Hanefeld and preserved speech variants represent the extremes of the range of severity of epilepsy: the preserved speech variant is characterized by the mildest epileptic phenotype as epilepsy is much less frequent, starts later, and is less drug resistant than what is observed in the other phenotypes. Another important finding is that seizure onset before 1 year of age and daily frequency are risk factors for drug resistance. Thus, this study should help clinicians provide better clinical counseling to the families of patients with Rett syndrome.

Intrauterine growth in the offspring of epileptic women: a prospective multicenter study.

The aim of the present study was to evaluate the risk of intrauterine growth delay in the offspring of epileptic mothers and to quantify the risks of intrauterine exposure to antiepileptic drugs (AEDs). Data concerning 870 newborns, prospectively collected in Canada, Japan and Italy, using the same study design, were pooled and analyzed. The overall proportion of newborns whose body weight (7.8%) or head circumference (11.1%) at birth were below the 10th percentile was not increased. However, logistic regression analysis showed that the risk of small head circumference was significantly higher in Italian than in Japanese (RR 4.2; 95% CI: 2.2-8.0) or Canadian children (RR 2.6; 95% CI: 1.1-6.5), and in children exposed to polytherapy (RR 2.7; 95% CI: 1.2-6.3), phenobarbital (PB) (RR 3.6; 95% CI: 1.4-9.4) and primidone (PRM) (RR 4.5; 95% CI: 1.5-13.8). Country was also the only factor affecting low body weight, with Italian children having a higher risk than Japanese (RR 5.2; 95% CI: 2.6-10.4) or Canadian (RR 8.8; 95% CI: 2.0-38.1) children. Due to the small categories, the influence of AED doses and plasma concentrations was studied for each individual AED, without adjustment for the other potential confounding factors. A clear dose-dependent effect was found for PB and PRM in terms of both small head circumference and low body weight, and a concentration-dependent effect for PB in terms of small head circumferences. The size of the difference between the Italian and the other two populations, which is only partially explained by differences in therapeutic regimens, suggests that genetic, environmental and ethnic factors also need to be taken into account when considering possible explanations.

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.

Epilepsy in TSC: Certain etiology does not mean certain prognosis

Prevalence and long‐term outcome of epilepsy in tuberous sclerosis complex (TSC) is reported to be variable, and the reasons for this variability are still controversial.

The visual system in eyelid myoclonia with absences.

To investigate the functional and structural brain correlates of eyelid myoclonus and absence seizures triggered by eye closure (eye closure sensitivity [ECS]).

Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: A European survey and analysis of 65 cases

Purpose:  To gain new insights into the clinical presentation, causes, treatment and prognosis of epilepsia partialis continua (EPC), and to develop hypotheses to be tested in a prospective investigation.

Patients with epilepsy and patients with psychogenic non-epileptic seizures: Video-EEG, clinical and neuropsychological evaluation

PURPOSE The incidence of psychogenic non-epileptic seizures (PNES) is 4.9/100,000/year and it is estimated that about 20-30% of patients referred to tertiary care epilepsy centers for refractory seizures have both epilepsy and PNES. The purpose of our study is to evaluate psychiatric disorders and neuropsychological functions among patients with PNES, patients with epilepsy associated with PNES and patients with epilepsy. METHODS We evaluated 66 consecutive in-patients with video-EEG recordings: 21 patients with epilepsy, 22 patients with PNES and 10 patients with epilepsy associated with PNES; 13 patients were excluded (8 because of mental retardation and 5 because they did not present seizures or PNES during the recording period). RESULTS All patients with PNES had a psychiatric diagnosis (100%) vs. 52% of patients with epilepsy. Cluster B personality disorders were more common in patients with PNES. We observed fewer mood and anxiety disorders in patients with PNES compared with those with epilepsy. We did not find statistically significant differences in neuropsychological profiles among the 3 patient groups. CONCLUSION This study can help to contribute to a better understanding of the impact of PNES manifestations, in addition to the occurrence of seizures, in order to provide patients with more appropriate clinical, psychological and social care.