Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation.

Most families with genetic epilepsy with febrile seizures plus show a mutation in the sodium channel alpha 1 subunit gene, however, but there is much phenotypic heterogeneity and focal epilepsy remains relatively rare. Here, we report a family with electroclinical features indicative of temporal-parietal-occipital carrefour epilepsy with common occurrence of post-ictal migraine. We studied a four-generation family including nine affected subjects by means of EEG and MRI.

Cognitive dysfunctions in occipital lobe epilepsy compared to temporal lobe epilepsy.

Objective: To compare cognitive profiles of occipital lobe epilepsy (OLE) and temporal lobe epilepsy (TLE) and to investigate whether impairment of visuospatial functions is a specific deficit of OLE.

Method: Eighteen patients with OLE, 18 patients with TLE, and 18 controls underwent a neuropsychological battery assessing memory, visuospatial functions, and frontal/executive functions.

Results: Multivariate analysis evidenced poorer performance of patients with TLE and patients with OLE relative to controls on tasks assessing verbal and non-verbal long-term memory, frontal functions, and visuospatial functions.

The syndrome of absence status epilepsy: review of the literature.

The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed.

Neuropsychological profile of adult patients with nonsymptomatic occipital lobe epilepsies.

To explore the neuropsychological and neurobehavioral profile in adult patients affected by nonsymptomatic (cryptogenic and idiopathic) occipital lobe epilepsy (OLE), with normal intelligence, we enrolled 20 adult patients with nonsymptomatic OLE and 20 age-, sex-, and education-matched healthy subjects. All participants underwent neuropsychiatric assessment scales, and standardized neuropsychological tests tapping memory, executive functions, constructional, visuospatial and visuoperceptual skills. After Bonferroni correction for multiple comparisons, patients performed significantly worse than controls on several tests tapping complex visuospatial skills and frontal lobe functions.

Levetiracetam in clinical practice: efficacy and tolerability in epilepsy.

Background: The aim of this study was to evaluate efficacy and tolerability of levetiracetam (LEV) in patients with different epilepsy syndromes.

Methods: We evaluated epileptic patients seen in the previous 18 months, including all patients with present or past exposure to LEV. Tolerability of LEV therapy was evaluated in all patients; efficacy was evaluated only in patients who had received LEV for at least six months.

Thalamic activation and cortical deactivation during typical absence status monitored using [18F]FDG-PET: a case report.

We describe the ictal [(18)F]FDG-PET study of a case of absence status showing bilateral thalamic hypermetabolism and frontal cortex hypometabolism. This is the first ictal assessment of absence status by [(18)F]FDG-PET reporting this particular cortical and subcortical involvement. Our findings support the theory of corticothalamic circuitry involvement in the pathophysiology of absence seizures and stress the similarities of the clinical and metabolic pattern observed during absences with the pattern of task-induced interruption of the default state of brain function.

Transient epileptic amnesia: an emerging late-onset epileptic syndrome.

Transient epileptic amnesia (TEA) is a distinct neurologic condition occurring in late-middle/old age and presenting with amnesic attacks of epileptic nature and interictal memory disturbances. For many years this condition has been associated with the nonepileptic condition of transient global amnesia (TGA) and still today is poorly recognized by clinicians. Despite the clinical and laboratory findings that distinguish TEA from TGA, differential diagnosis may be difficult in the individual patient.

Polycystic ovary syndrome in women using valproate: a review.

Valproate (VPA) is a highly effective drug successfully employed in several neuropsychiatric diseases. In the last 15 years, an increased prevalence of polycystic ovary syndrome (PCOS) associated with VPA use has been reported in both women with epilepsy and women with bipolar disorders. However, data on this subject are contrasting and it is possible that different factors might play a role in the development of PCOS in these patients.

Levetiracetam in patients with epilepsy and chronic liver disease: observations in a case series.

Objectives: To evaluate levetiracetam (LEV) tolerability in patients with epilepsy and liver disease.

Methods: Fourteen patients with epilepsy and concomitant liver disease were treated with LEV in an open prospective investigation mimicking the daily clinical practice. All patients were stabilized (ie, for at least 1 year) on traditional antiepileptic drugs with complete or partial control of seizures.

Levetiracetam in idiopathic generalised epilepsy and porphyria cutanea tarda.

We report the case of a 50-year-old male patient with idiopathic generalised epilepsy and porphyria cutanea tarda. Valproic acid and phenobarbital monotherapy controlled seizures but exacerbated porphyric symptomatology, while clobazam, clonazepam and lamotrigine monotherapy were well tolerated as regards porphyric disturbances but did not completely control seizures. Tonic- clonic seizures were eventually controlled by a combination of clonazepam (9 mg/day) and lamotrigine (150 mg/day), but absences persisted and this treatment caused significant adverse effects consisting of sedation and memory disturbances.

Polycystic ovary syndrome and epilepsy: a review of the evidence.

Overrepresentation of polycystic ovary syndrome (PCOS) in women with epilepsy has been described since the early 1980s. While some authors attribute this association to an effect of the seizure disorder on the hypothalamic control of reproductive function, others have reported a relationship with the use of the antiepileptic drug valproic acid (VPA). In this article we review the literature on this complex issue, with a detailed analysis of the different reports which describe the reproductive endocrine assessment in women with epilepsy.

Eyelid myoclonia with absences: an overlooked epileptic syndrome?

Aim: To identify, among patients referred to our Epilepsy Center, those fulfilling eyelid myoclonia with absences (EMA) criteria and to evaluate their semiological, electroclinical and evolutive features. In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording.

Materials And Methods: Retrospective analysis of 2780 epileptic patients.

Small hypothalamic hamartomas and gelastic seizures.

Purpose: To describe the clinical history of patients with gelastic seizures (GSs) related to small-size hypothalamic hamartomas (HHs), and to show some of these unusual seizures.

Material And Methods: Patients with GSs and the MRI finding of HH < 1 cm diameter. Ictal EEG or video EEG are required.