Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Frontal Lobe Epilepsy: A New Clinico-Pathological Entity.

The histopathological spectrum of human epileptogenic brain lesions is widespread including common and rare variants of cortical malformations. However, 2-26% of epilepsy surgery specimens are histopathologically classified as nonlesional. We hypothesized that these specimens include also new diagnostic entities, in particular when presurgical magnetic resonance imaging (MRI) can identify abnormal signal intensities within the anatomical region of seizure onset.

Glutamate-mediated upregulation of the multidrug resistance protein 2 in porcine and human brain capillaries.

As a member of the multidrug-resistance associated protein (MRP) family, MRP2 affects the brain entry of different endogenous and exogenous compounds. Considering the role of this transporter at the blood-brain barrier, the regulation is of particular interest. However, there is limited knowledge regarding the factors that regulate MRP2 in neurologic disease states.

Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages.

The prevalence of focal cortical dysplasia (FCD) in pediatric patients with focal epilepsy is not exactly known because authors of publications in which the etiologies of epilepsies are listed, but which are not dealing specifically with epilepsy surgery issues, tend to lump together the many kinds of malformations of cortical development (MCD), of which FCDs, because of their relative frequency, are the most relevant subtypes. Out of 561 patients with MCD (children and adults) operated at centers in Europe who do feed data into the "European Epilepsy Brain Bank," 426 (76 %) had FCD.

Towards early diagnosis and treatment to save children from catastrophic epilepsy -- focus on epilepsy surgery.

Objective: To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past.

Methods: Based on data from the literature and supplemented by the authors own experience, risks for children suffering from structural focal epilepsies that the epilepsy becomes catastrophic and ways how such evolutions can possibly be prevented are discussed for the different lesion-types separately - in the order of their frequency as they are seen at pediatric epilepsy surgery centers. Special emphasis is put on data regarding attempts to prevent permanent severe mental retardations.

Bromide in patients with SCN1A-mutations manifesting as Dravet syndrome.

We report a retrospective analysis of bromide therapy in 32 patients suffering from Dravet syndrome with SCN1A-mutations who received bromide. After 3 months of bromide treatment, 26 patients (81%) showed a relevant improvement with a reduction of seizure frequency by >50% (>75%) in 18 (12) patients (56 and 37%, respectively). After 12 months, we observed a reduction of >50% (>75%) in 15 (9) patients (47 and 28%, respectively).

Low long-term efficacy and tolerability of add-on rufinamide in patients with Dravet syndrome.

In this retrospective European multicenter study we evaluated the efficacy and tolerability of rufinamide in patients with Dravet syndrome and refractory seizures. Twenty patients were included; in 16 patients a SCN1A mutation was detected. The responder rate after 6 months was 20%, and after 34 months, 5%.

Effectiveness of low dose of topiramate following rapid titration in multiply handicapped children and difficult-to-treat epilepsy.

This prospective, observational, single arm, monocentric study explored efficacy and tolerability outcomes of rapid oral initiation of topimarate in children with difficult to treat epilepsy. The study population consisted of 19 multiply handicapped children (mean age 4.4 years, range 0.

Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred.

Five infants of a Moslem-Arab extended family were evaluated for common and characteristic clinical findings of failure to thrive, extreme muscle weakness, severe motor delay, and moderate to severe cognitive and verbal delay. All children were below the third percentile in weight and height, and three of them had head circumference below the third percentile. Neurologic examination revealed severe hypotonia, muscle weakness, and absent deep tendon reflexes.