Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.

This is the case of a 16-year-old girl with juvenile myoclonic epilepsy (JME) and maternal family history positive for epilepsy and febrile seizures, presenting ictal and interictal generalised, as well as focal paroxysmal abnormalities over the right central-temporal regions activated during sleep. The brain magnetic resonance image was normal and the seizures responded to therapy with valproate and lamotrigine. A molecular genetic analysis led to the identification of a polymorphism (A-->G) in position 10 in the intron 3 (rs949626) of the EFHC1 gene; and a polymorphism (T-->C) of the exon of the GABRA1 gene, without aminoacidic exchange.

So-called "petit mal status": epileptic syndrome or seizure type?

In 1945, Lennox was the first to describe the epileptic states mainly expressed by various degrees of consciousness disturbance, which have their onset in children who present epileptic absences correlated with ictal EEG patterns of spike-wave complex discharges at about 3 Hz. As the clinical picture seemed to be similar to an uninterrupted series of absences, this led to the definition "Petit Mal Status" (PMS). Many authors have subsequently reported that PMS can occur in epileptic subjects who have never presented absences (and even in subjects without a previous history of epilepsy) and that the related EEG pictures were characterised by paroxysmal generalized activity of various morphology, but hardly ever consisted of the continuous rhythmic spike-wave or polyspike-wave complexes at 3 Hz found in petit mal absences.

Attention problems in epilepsy: possible significance of the epileptogenic focus.

Investigation of the relation between epilepsy and cognition presents serious methodologic problems because several factors may contribute to impair neuropsychological performances in epileptic persons. Benign epilepsy of childhood with rolandic paroxysmal discharges (EPR) may be a very useful model of investigation in relation to opportunity to examine subjects without brain damage, therapy, and negative environmental influences. Thus, neuropsychological dysfunction in patients with EPR may support the hypothesis that epilepsy itself plays a specific role in the genesis of cognitive disturbances.

Epilepsy with bilateral occipital calcifications: Sturge-Weber variant or a different encephalopathy?

A series of cases of epilepsy with associated bilateral occipital calcifications (EBOC) without signs of phakomatosis and without any disorders known to produce cerebral calcifications have been reported. It is unclear whether EBOC is an incomplete variant of Sturge-Weber disease (SWD) or if it is a different, as yet undefined encephalopathy. We describe four new cases of EBOC that are different clinically by age of onset, type, course, severity of epilepsy, and associated cognitive deficits but that are linked by similar neuroradiologic findings.

Neuropsychological features of benign partial epilepsy in children.

Rolandic paroxysmal epilepsy (RPE) is a useful model for investigating the complex links between epilepsy and cognitive dysfunction. 44 children with RPE who met the following (among other) criteria: negative CT scan, freedom from drug treatment, and IQ greater than or equal to 80, were assigned to three subgroups by side of EEG focus: left, right and bilateral. A neuropsychological battery elicited small differences in cognitive performance between the whole group and the controls and among the subgroups, only partially correlated with EEG side.

Language lateralization in children with benign partial epilepsy.

To investigate the relationship between epilepsy and hemispheric asymmetries for language, a dual-task procedure was used to assess language lateralization in children with benign rolandic childhood epilepsy. In the sample selection, care was taken to include factors believed to influence both the mental capabilities of epileptic patients and the individual functional cerebral organization. Results suggest that the interhemispheric prevalence pattern is related to the focus site.

[Homolateral and controlateral disturbances in the tactile discrimination of the hemispheric lesions].

Ten normal controls and 45 brain-damaged patients, affected by lesions of the right (N = 25) or of the left (N = 20) hemisphere were given a test of two points discrimination, in order to check the hypothesis of a different organization of the somesthetic function at the level of the dominant and of the minor hemisphere. Somatosensory thresholds were measured at the level of the back of the hands and of the back of the feet by means of a modified version of the Weber two-point aesthesiometer. When patients with lesions of the right and of the left hemisphere were compared the following results were obtained: --somatosensory thresholds were higher on the contralateral than on the ipsilateral side of the body in both groups of patients; --ipsilateral defects were found in about 20% of the brain-damaged patients, but no relationship was put in evidence between laterality of lesion and ipsilateral sensory defects.