Roberto Biondi

Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Summary:  Purpose: To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE).

Clinical and genetic findings in 26 Italian patients with Lafora disease.

Summary:  Purpose: EPM2B mutations have been found in a variable proportion of patients with Lafora disease (LD). Genotype–phenotype correlations suggested that EPM2B patients show a slower course of the disease, with delayed age at death, compared with EPM2A patients. We herein report clinical and genetic findings of 26 Italian LD patients.

Epilepsy and toxocariasis: a case–control study in Italy

Purpose: To assess the relationship between epilepsy and toxocariasis in adult subjects by means of a case–control study in Catania, Italy.

Epilepsy and Multiple Sclerosis in Sicily: A Population‐based Study

Summary:  Purpose: To evaluate the association between epilepsy and multiple sclerosis (MS), we analyzed the incidence of epilepsy in a population‐based incidence cohort of MS in Catania, Sicily.

A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome)

Objective: Eyelid myoclonia with absences (EMA) or Jeavons syndrome characterized by eyelid myoclonia (EM) (with or without absences), eye closure‐induced EEG paroxysms, and photosensitivity. We conducted an open‐label trial of levetiracetam in EMA.

Seizures in Chiari I malformation: a clinical and electroencephalographic study.

Seven subjects with Chiari I malformations and seizures (four males, three females; age range 11 years, 7 months to 36 years; mean, 22.28 ± 7.58 years; median, 21) were identified in four different centers from among a group of 10 patients. Our aim was to analyze clinical and electroencephalographic characteristics of seizures in this etiologically homogeneous group of patients. Most of the seizures were of the complex partial type, and paroxysmal abnormalities were mainly localized over the frontal and temporal regions. The course of the epilepsy was rather benign, with complete control of seizures in four patients and an important reduction in frequency in the remaining three subjects. Other cortical alterations are not usually associated with the typical abnormalities of the posterior fossa in Chiari I malformation; thus, it is possible to hypothesize that cerebral microdysgenesis or, alternatively, a cerebellar dysfunction could underlie epileptogenesis in these patients. (J Child Neurol 1999;14:446-450).

Clinical heterogeneity in eyelid myoclonia, with absences, and epilepsy

Eyelid myoclonia with absences should always be considered in the investigation of children with epilepsy.