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      A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature

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          Abstract

          A 15-year-old girl with maternal inheritance of neurofibromatosis type 1 (NF1) and paternal inheritance of tuberous sclerosis complex (TSC) developed intractable epilepsy at age 5. Her seizures were refractory to adequate doses of four antiepileptic medications until felbamate was initiated at age 7. She has since remained seizure-free on felbamate monotherapy. Although felbamate has multiple mechanisms of action, it is thought to have its most potent antiepileptic effects through inhibition of the N-methyl-D-aspartate receptor (NMDAR). Previous studies have shown that the NMDAR is altered in varying epilepsy syndromes and notably in the cortical tubers found in TSC. The aim of this paper is to examine how felbamate monotherapy was able to achieve such robust antiepileptic effects in a unique patient and possibly offer a novel therapeutic approach to patients suffering from TSC- and NF-related epilepsy.

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          Proteomic analysis of NMDA receptor-adhesion protein signaling complexes.

          H Husi, M Ward, J. Choudhary … (2000)
          N-methyl-d-aspartate receptors (NMDAR) mediate long-lasting changes in synapse strength via downstream signaling pathways. We report proteomic characterization with mass spectrometry and immunoblotting of NMDAR multiprotein complexes (NRC) isolated from mouse brain. The NRC comprised 77 proteins organized into receptor, adaptor, signaling, cytoskeletal and novel proteins, of which 30 are implicated from binding studies and another 19 participate in NMDAR signaling. NMDAR and metabotropic glutamate receptor subtypes were linked to cadherins and L1 cell-adhesion molecules in complexes lacking AMPA receptors. These neurotransmitter-adhesion receptor complexes were bound to kinases, phosphatases, GTPase-activating proteins and Ras with effectors including MAPK pathway components. Several proteins were encoded by activity-dependent genes. Genetic or pharmacological interference with 15 NRC proteins impairs learning and with 22 proteins alters synaptic plasticity in rodents. Mutations in three human genes (NF1, Rsk-2, L1) are associated with learning impairments, indicating the NRC also participates in human cognition.
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            NMDA receptor pathways as drug targets.

            R McKernan, Roslyn A Kemp (2002)
            Since the mid 1980s, there has been a great deal of enthusiasm within both academia and industry about the therapeutic potential of drugs targeting the NMDA subtype of glutamate receptors. That early promise is just beginning to translate into approvable drugs. Here we review the reasons for this slow progress and critically assess the future prospects for drugs that act on NMDA receptor pathways, including potential treatments for some major disorders such as stroke and Alzheimer's disease, for which effective therapies are still lacking.
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              The NMDA receptor complex as a therapeutic target in epilepsy: a review.

              Mehdi Ghasemi, Steven Schachter (2011)
              A substantial amount of research has shown that N-methyl-D-aspartate receptors (NMDARs) may play a key role in the pathophysiology of several neurological diseases, including epilepsy. Animal models of epilepsy and clinical studies demonstrate that NMDAR activity and expression can be altered in association with epilepsy and particularly in some specific seizure types. NMDAR antagonists have been shown to have antiepileptic effects in both clinical and preclinical studies. There is some evidence that conventional antiepileptic drugs may also affect NMDAR function. In this review, we describe the evidence for the involvement of NMDARs in the pathophysiology of epilepsy and provide an overview of NMDAR antagonists that have been investigated in clinical trials and animal models of epilepsy. Copyright © 2011 Elsevier Inc. All rights reserved.
              Article 0 comments Cited 63 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Rep Neurol Med
                Journal ID (iso-abbrev): Case Rep Neurol Med
                Journal ID (publisher-id): CRINM
                Title: Case Reports in Neurological Medicine
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 2090-6668
                ISSN (Electronic): 2090-6676
                Publication date (Print): 2015
                Publication date (Electronic): 22 October 2015
                Volume: 2015
                Electronic Location Identifier: 960746
                Affiliations
                1Division of Neurology, Department of Pediatrics, Rady Children's Hospital San Diego and University of California San Diego, San Diego, CA 92123, USA
                2Minnesota Epilepsy Group, P.A. of United Hospital and Children's Hospitals and Clinics of Minnesota, St. Paul, MN 55102, USA
                3Division of Neurology, Department of Pediatrics, Tufts University School of Medicine and Floating Hospital for Children, Tufts-New England Medical Center, Boston, MA 02111, USA
                Author notes
                *Natanya M. Mishal: nmaio@ 123456ucsd.edu

                Academic Editor: Chin-Chang Huang

                Article
                DOI: 10.1155/2015/960746
                PMC ID: 4633543
                SO-VID: a7747e64-07d4-4c3d-8777-fcc87b56965d
                Copyright © Copyright © 2015 Natanya M. Mishal et al.
                License:

                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.

                History
                Date received : 18 June 2015
                Date revision received : 23 September 2015
                Date accepted : 5 October 2015
                Categories
                Subject: Case Report

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