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Symptomatic Focal Epilepsy (symptomatic + focal_epilepsy)
Selected AbstractsPanayiotopoulos Syndrome: An Important Electroclinical Example of Benign Childhood System EpilepsyEPILEPSIA, Issue 6 2007Michael Koutroumanidis Summary:, As a result of the converging evidence from multiple large independent studies, Panayiotopoulos syndrome (PS) is now formally recognized as a distinct clinical entity within the spectrum of benign focal epilepsies of childhood. Clinically, PS is manifested by predominantly autonomic seizures and electrographically with multifocal interictal spikes, while the few published ictal recordings have documented onsets of variable lobar topography. These typical electroclinical features do not allow straightforward assignment to a distinctive cortical area, rendering the term "focal",as we currently understand it,problematic. This is a critical review of the clinical and EEG features of PS, focusing on those characteristics that may shed some light on its so far elusive pathophysiology. We also explore its electroclinical similarities to other idiopathic "focal" epilepsies and its differences to symptomatic focal epilepsies that may also manifest with autonomic ictal symptoms and signs. This methodology allows the formation of a rational hypothesis on the pathophysiology of PS that seems to be emerging as a good model for the so-called "system" (nonsymptomatic) epilepsies, with potentially important taxonomic implications. [source] Carbonic Anhydrase Inhibitor Sulthiame Reduces Intracellular pH and Epileptiform Activity of Hippocampal CA3 NeuronsEPILEPSIA, Issue 5 2002Tobias Leniger Summary: ,Purpose: Sulthiame is a carbonic anhydrase (CA) inhibitor with an anticonvulsant effect in the treatment of benign and symptomatic focal epilepsy in children. The aim of the study was to elucidate the mode of action of sulthiame with respect to possible changes of intracellular pH (pHi) that might develop along with sulthiame's anticonvulsant properties. Methods: The effects of sulthiame (a) on pHi of 2,,7-bis(2-carboxyethyl)-5(6)-carboxyfluorescein-acetoxymetyl ester (BCECF-AM) loaded CA3 neurones as well as (b) on epileptiform activity (induced by 50 ,M 4-aminopyridine) were compared with those of the CA inhibitors acetazolamide and benzolamide. Results: In the majority of neurons, sulthiame (1.0,1.5 mM; n = 8) as well as the membrane permeant acetazolamide (0.5,1.0 mM; n = 6) reversibly decreased pHi by 0.18 ± 0.05 (SD) and 0.17 ± 0.10 (SD) pH units, respectively, within 10 min. The poor membrane permeant benzolamide (1.0,2.0 mM) had no influence on pHi (n = 8). Sulthiame (1.0,2.5 mM) and acetazolamide (1.0,2.0 mM) reversibly reduced the frequency of action potentials and epileptiform bursts after 10,15 min (n = 9, n = 7), whereas benzolamide (1.0,2.0 mM) had no effect (n = 6). Conclusions: The results suggest that sulthiame acts as a membrane-permeant CA inhibitor whose beneficial effect on epileptiform activity results at least in part from a modest intracellular acidosis of central neurons. [source] Deletions of SCN1A 5, genomic region with promoter activity in Dravet syndrome,HUMAN MUTATION, Issue 7 2010Tojo Nakayama Abstract Mutations involving the voltage-gated sodium channel ,I gene SCN1A are major genetic causes of childhood epileptic disorders, as typified by Dravet syndrome. Here we investigated the upstream regions of the SCN1A 5, noncoding exons and found two major regions with promoter activity. These two major promoters were simultaneously active in various brain regions and in most neurons. Using multiplex ligation-dependent probe amplification (MLPA) assays with probes for the 5, noncoding exons, their upstream regions, and all coding exons of SCN1A, we investigated 130 epileptic patients who did not show any SCN1A mutations by sequence analysis of all coding exons and exon,intron boundaries. Among 71 Dravet syndrome patients, we found two patients with heterozygous microdeletions removing the 5, noncoding exons and regions with promoter activity but not affecting the coding exons. We also identified four patients with deletions/duplication in the coding region. One patient with symptomatic focal epilepsy also showed a deletion in the coding region. This study provides the first case of microdeletion limited to the SCN1A 5, promoter region with the coding sequence preserved, and indicates the critical involvement of this upstream region in the molecular pathology of Dravet syndrome. Hum Mutat 31:,11, 2010. © 2010 Wiley-Liss, Inc. [source] Efficacy of levetiracetam in pharmacoresistant continuous spikes and waves during slow sleepACTA NEUROLOGICA SCANDINAVICA, Issue 3 2004G. Capovilla Objective , To evaluate the efficacy of levetiracetam (LEV) in continuous spikes and waves during slow sleep (CSWS). Despite first description dates back to 1971, no agreement exists about CSWS treatment. The condition is rare and controlled clinical trials are very difficult to perform, so the reports about efficacy of different drugs are anecdotal. Patients and methods , We introduced LEV in three children affected by symptomatic focal epilepsy and pharmacoresistant CSWS and evaluated clinical, neuropsychological and electroencephalographic outcome. Results , Two cases responded completely, one case showed only a mild reduction of spikes and waves during slow sleep. Conclusion , Even if our report is anecdotal, LEV expands the spectrum of antiepileptic drugs that can be used for the treatment of CSWS. LEV efficacy should be confirmed in larger series. [source] | ||||||||||