[Levetiracetam in the treatment of epilepsy in adults. Experience with monotherapy]. / Levetiracetam en el tratamiento de la epilepsia del adulto. Experiencia en monoterapia.

INTRODUCTION: Levetiracetam (LEV) is an antiepileptic drug recently approved in monotherapy. AIM. To describe the characteristics and the outcome of a population of patients treated with LEV in monotherapy in clinical practice. PATIENTS AND METHODS: A retrospective analysis of the epilepsy patients database of two epilepsy Units was performed. In both centers, an epilepsy patients database is routinely filled during daily clinical practice. All the patients in whom LEV was used in monotherapy up to December 2005, and received at least one dose of the drug in monotherapy were included. Monotherapy was achieved from onset or after withdrawal of other concomitant antiepileptic drugs. It was administered with a schedule depending of the renal function. The following data were analyzed: demographic characteristics, follow-up, epilepsy type, previous seizure frequency, maintenance dose, efficacy and side effects. RESULTS: 62 patients with a mean age of 53.67 years (range: 19-94 years) were included. The patients were followed a mean of 12.4 months, with a minimum of three months. Epilepsy type was mainly partial (83.8%) and symptomatic (54.8%). The mean previous number of seizures was 8.6 and the mean maintenance dose was 1,314 mg (range: 250-2,000 mg). 58 patients (93%) were considered responders (at least a 50% reduction of seizures) with 71% of them free of seizures. Side effects were observed in 19 patients. There were 9 (14.5%) withdrawals (5 because of side effects, 1 death not related to drug use and 3 non-responders). CONCLUSIONS: LEV was used in monotherapy in a population relatively old and no refractory, when proved efficient it showed few side effects.

[The course of the catastrophic epilepsies]. / Evolución de las epilepsias catastróficas.

INTRODUCTION: Catastrophic epilepsy is a term applied to epilepsies with early onset, frequent and refractory seizures and cognitive impairment. The prognosis of these epilepsies is usually unfavorable. However, only a suitable diagnosis will allow the right treatment and a better prognosis. DEVELOPMENT: At the time of this writing there are a wide range of diagnostic tests, such as RMI, PET and video EEG that may lead right diagnostic of patients. CONCLUSION: The spectrum of therapies has also been widened. New antiepileptic drugs, with new mechanisms of action are being developed as well as improved surgical techniques. The rational use of these procedures will optimize control of seizures and improve cognitive impairment.

[Pre-operative assessment of language and memory using functional magnetic resonance imaging techniques in patients with refractory epilepsy]. / Evaluación prequirúrgica del lenguaje y la memoriamediante técnicas de resonancia magnética funcionalen pacientes con epilepsia farmacorresistente.

INTRODUCTION: Functional magnetic resonance imaging is a non-invasive technique that provides relevant information in the presurgical evaluation of patients with refractory temporal lobe epilepsy by means of cognitive eloquent areas mapping. DEVELOPMENT: Our objective is to present a presurgical evaluation protocol that includes memory and language tasks. Language evaluation was based on a verbal generation and a verbal fluency task, whereas memory evaluation was done by the scene encoding and home walk paradigms.

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.

BACKGROUND: Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes. LD is characterized by the presence of strongly PAS-positive intracellular inclusions (Lafora bodies) in several tissues. Glycogen storage disease type IV (GSD-IV; Andersen disease) is an autosomal recessive disorder characterized by cirrhosis leading to severe liver failure. GSD-IV has been associated with mutations in the glycogen branching enzyme gene (GBE). Histopathologic changes of the liver in both diseases show an identical appearance, although cirrhosis has never been described in patients with LD. We report a LD family in which the proband presented severe liver failure at onset of the disease. METHODS: Clinical histories, physical and neurologic examination, laboratory tests, EEGs, MRI of the brain, and liver or axillary skin biopsies were performed in the two affected siblings. The diagnosis was confirmed by molecular genetic analysis of the EPM2A, EPM2B, and GBE genes and loci. RESULTS: During the first decade of life, abnormalities in liver function tests were detected in the two affected siblings. The proband's liver dysfunction was severe enough to require liver transplantation. Subsequently, both sibs developed LD. Mutation analysis of EPM2A revealed a homozygous Arg241stop mutation in both patients. CONCLUSIONS: This is the first description of severe hepatic dysfunction as the initial clinical manifestation of LD. The phenotypic differences between the two affected siblings suggest that modifier genes must condition clinical expression of the disease outside the CNS.