An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy.

Objective: To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy of infancy (SMEI).

Patients And Methods: SMEI patients were recruited from different centers according to the following criteria: age > or =3 years; at least four tonic-clonic seizures/month during the last 8 weeks; previous use of at least two drugs. Levetiracetam was orally administrated at starting dose of approximately 10 mg/kg/day up to 50 to 60 mg/kg/day in two doses.

Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view.

Purpose: To discuss and propose a definition of autonomic status epilepticus (SE), describe its clinical and EEG features, and review what is known about its epidemiology, pathophysiology, differential diagnosis, and management.

Methods: An international consortium of established researchers in the field was identified from their published work, agreed the purpose of the project, searched the literature, and, by use of e-mail communication, agreed the consensus document.

Results: Autonomic SE is a condition lasting at least 30 min and characterized by epileptic activity causing altered autonomic function of any type at seizure onset or in which manifestations consistent with altered autonomic function are prominent (quantitatively dominant or clinically important) even if not present at seizure onset.

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype-phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome).

Patients And Methods: Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation probe amplification (MLPA). MRI inclusion criteria were: last examination obtained after the age of 4 years on 1.

Abnormalities of the contingent negative variation in Huntington's disease: correlations with clinical features.

The contingent negative variation (CNV) is a neurophysiological pattern related to planning of external - paced, voluntary movements. The aim of the study, was to examine the CNV in a cohort of mild demented and non-medicated HD patients, evaluating the CNV amplitude modifications in the light of clinical features and performing Low Resolution Brain Electromagnetic Tomography (LORETA) analysis in order to show the CNV multiple generators. Fourteen HD patients and 25 sex and age-matched controls were studied.

Two years' follow-up of rivastigmine treatment in Huntington disease.

Objectives: In a previous short-term study, rivastigmine has shown a mild effect in ameliorating cognitive impairment and slowing motor deterioration in patients affected by Huntington disease (HD). The aim of the present study was to assess the long-term efficacy of rivastigmine on motor and cognitive impairment in HD patients.

Methods: This was an open-label, controlled study with blinded rates: 11 HD patients were evaluated after 2 years under 6 mg rivastigmine treatment versus 6 patients sorted as controls.

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Neuronal ceroid lipofuscinoses (NCLs) are characterized by epilepsy, visual failure, psychomotor deterioration, and accumulation of autofluorescent lipopigment. CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. We describe the clinical and neurophysiological findings of three patients with CLN8 mutations from Italy.

The spectrum of benign infantile seizures.

Benign epilepsies during infancy are a wide topic, which needs both clinical and nosological clarifications. Already in 1963 Fukuyama reported patients with seizures during infancy with a benign outcome. In the late 80s and early 90s, Watanabe reported series of infants with complex partial seizures or partial seizures with secondary generalization, with a normal development before onset and a benign outcome.

Occurrence of a prolonged nonepileptic motor status after a febrile seizure.

Purpose: Febrile seizures are very common events in the pediatric population, and this disorder could be inherited. A previous article on nonepileptic status after a febrile seizure was published by Japanese authors. They described convulsive manifestations after a febrile seizure with an EEG counterpart characterized by delta activity and rhythmic theta discharges.

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive neurodegenerative disorders typically characterized by the accumulation of autofluorescent material in tissues. On the basis of clinical features, age at onset, and molecular genetic defects, it is possible to distinguish at least nine forms. The CLN8 form was first described in Finland, where all the patients are homozygous for a p.

A novel SCN2A mutation in family with benign familial infantile seizures.

Benign familial infantile seizures (BFIS) is a clinical entity characterized by focal seizures with or without secondary generalization, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. BFIS is a genetically heterogenous condition with loci mapped to chromosomes 19 and 16.

Evidence for a rapid action of levetiracetam compared to topiramate in refractory partial epilepsy.

The objective of this observational study was to compare the efficacy of levetiracetam and topiramate during the first 15 days of add-on treatment in adults with refractory partial epilepsy. Two cohorts of patients with > or =3 simple or complex partial seizures with or without secondary generalisation per month over an 8-week baseline period received levetiracetam or topiramate in two distinct phases, in addition to standard antiepileptic treatment. During the first 15 days of the therapy, levetiracetam was added at the dosage of 250 mg b.

Efficacy of levetiracetam in Huntington disease.

Objective: Levetiracetam (LEV) is a novel antiepileptic drug characterized by a wide spectrum of action; no pharmacologic interaction and poor adverse events are reported. In animal models, effects of LEV are observed in basal ganglia. The aim of this study was to evaluate the efficacy of LEV in reducing involuntary movements in subjects affected by Huntington disease (HD).

Non-epileptic paroxysmal manifestations during sleep in infancy and childhood.

Sleep-related paroxysmal disorders in infancy and childhood have recently been reviewed and classified by the American Sleep Disorders Association. Although in some patients diagnosis is easy to achieve, at times a video/EEG recording of the episodes is required because of the similarity to epileptic seizures. These disorders often represent a challenge for paediatricians as an accurate diagnosis is required.

A comparative study of the effect of carbamazepine and valproic acid on the pharmacokinetics and metabolic profile of topiramate at steady state in patients with epilepsy.

Purpose: To compare the influence of enzyme-inducing comedication and valproic acid (VPA) on topiramate (TPM) pharmacokinetics and metabolism at steady state.

Methods: Three groups were assessed: (a) patients receiving TPM mostly alone (control group, n =13); (b) patients receiving TPM with carbamazepine (CBZ; n = 13); and (c) patients receiving TPM with VPA (n = 12). TPM and its metabolites were assayed in plasma and urine by liquid chromatography-mass spectrometry (LC-MS).

Citalopram as treatment of depression in patients with epilepsy.

Objectives: To assess the safety of citalopram as a treatment of depression in patients with epilepsy.

Methods: This is an open, multicentered, uncontrolled study. Depressed epileptic patients on antiepileptic drugs (AEDs) took part in the study.

Early modifications of auditory event-related potentials in carriers of the Huntington's disease gene.

The P3 wave is one cognitive component of event-related potentials (ERP) used to investigate various types of dementia. The aim of this study was to use the odd-ball paradigm to evaluate the P3 in Huntington's Disease (HD) gene carriers who showed no symptoms of chorea, compared to a group of mildly affected HD patients. We selected 14 HD patients and six individuals who, despite testing positive for the HD gene, did not show any clinical evidence of the disease.

Autosomal recessive polymicrogyria with infantile spasms and limb deformities.

We describe two siblings, a girl and a boy, aged 4 and 2 years and 10 months respectively, born from non-consanguineous parents,with diffuse polymicrogyria, lower limb deformities, infantile spasms and developmental delay. Spasms had a good outcome under antiepileptic drug treatment. Clinical and imaging features were of identical severity in both siblings.

Features of the blink reflex in individuals at risk for Huntington's disease.

The aim of the study was to correlate the features of the blink reflex (BR) with the genetic abnormalities and the clinical findings in patients with Huntington's disease (HD) and asymptomatic gene carriers. Twenty patients with HD and 20 relatives were studied. Mutation analysis was performed for the CAG expansion within the HD gene using HD 333-HD 447 as oligonucleotide primers.