Blog
About

30
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Epileptic Encephalopathies in Adults and Childhood

      1 , 2 , *

      Epilepsy Research and Treatment

      Hindawi Publishing Corporation

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Epileptic encephalopathies are motor-mental retardations or cognitive disorders secondary to epileptic seizures or epileptiform activities. Encephalopaties due to brain damage, medications, or systemic diseases are generally not in the scope of this definition, but they may rarely accompany the condition. Appropriate differential diagnosis of epileptic seizures as well as subclinical electroencephalographic discharges are crucial for management of seizures and epileptiform discharges and relative regression of cognitive deterioration in long-term followup. Proper antiepileptic drug, hormonal treatment, or i.v. immunoglobulin choice play major role in prognosis. In this paper, we evaluated the current treatment approaches by reviewing clinical electrophysiological characteristics of epileptic encephalopathies.

          Related collections

          Most cited references 145

          • Record: found
          • Abstract: not found
          • Article: not found

          A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology.

           Jerome Engel (2001)
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy.

            (2015)
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

              Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy. Using array-based comparative genomic hybridization, we found a de novo 2.0-Mb microdeletion at 9q33.3-q34.11 in a girl with EIEE. Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated individuals with EIEE had heterozygous missense mutations in the gene encoding syntaxin binding protein 1 (STXBP1). STXBP1 (also known as MUNC18-1) is an evolutionally conserved neuronal Sec1/Munc-18 (SM) protein that is essential in synaptic vesicle release in several species. Circular dichroism melting experiments revealed that a mutant form of the protein was significantly thermolabile compared to wild type. Furthermore, binding of the mutant protein to syntaxin was impaired. These findings suggest that haploinsufficiency of STXBP1 causes EIEE.
                Bookmark

                Author and article information

                Journal
                Epilepsy Res Treat
                Epilepsy Res Treat
                ERT
                Epilepsy Research and Treatment
                Hindawi Publishing Corporation
                2090-1348
                2090-1356
                2012
                27 September 2012
                : 2012
                Affiliations
                1Neurology Department, American Hospital, 34365 Istanbul, Turkey
                2Neurosurgery Department, Koc University School of Medicine, Rumelifeneri Yolu Sarıyer, Istanbul 34450, Turkey
                Author notes

                Academic Editor: Nicola Specchio

                10.1155/2012/205131
                3465907
                23056934
                Copyright © 2012 Z. Kural and A. F. Ozer.

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Categories
                Research Article

                Neurology

                Comments

                Comment on this article