Abstract
Background: Epileptic encephalopathies represent the most severe epilepsies, with onset in infancy and childhood and seizures continuing in adulthood in most cases. New genetic causes are being identified at a rapid rate. Treatment is challenging and the overall outcome remains poor. Available targeted treatments, based on the precision medicine approach, are currently few.
Objective: To provide an overview of the treatment of epileptic encephalopathies with known genetic determinants, including established treatment, anecdotal reports of specific treatment, and potential tailored precision medicine strategies. Method: Genes known to be associated to epileptic encephalopathy were selected. Genes where the association was uncertain or with no reports of details on treatment, were not included. Although some of the genes included are associated with multiple epilepsy phenotypes or other organ involvement, we have mainly focused on the epileptic encephalopathies and their antiepileptic treatments. Results: Most epileptic encephalopathies show genotypic and phenotypic heterogeneity. The treatment of seizures is difficult in most cases. The available evidence may provide some guidance for treatment: for example, ACTH seems to be effective in controlling infantile spams in a number of genetic epileptic encephalopathies. There are potentially effective tailored precision medicine strategies available for some of the encephalopathies, and therapies with currently unexplained effectiveness in others. Conclusions: Understanding the effect of the mutation is crucial for targeted treatment. There is a broad range of disease mechanisms underlying epileptic encephalopathies, and this makes the application of targeted treatments challenging. However, there is evidence that tailored treatment could significantly improve epilepsy treatment and prognosis.Keywords: Seizures, antiepileptic treatment, precision medicine, genomics, Epileptic encephalopathies, phenotypes.
Current Pharmaceutical Design
Title:Treatment of Epileptic Encephalopathies
Volume: 23 Issue: 37
Author(s): Simona Balestrini*Sanjay M. Sisodiya
Affiliation:
- Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, and Epilepsy Society, Chalfont-St- Peter, Bucks,United Kingdom
Keywords: Seizures, antiepileptic treatment, precision medicine, genomics, Epileptic encephalopathies, phenotypes.
Abstract: Background: Epileptic encephalopathies represent the most severe epilepsies, with onset in infancy and childhood and seizures continuing in adulthood in most cases. New genetic causes are being identified at a rapid rate. Treatment is challenging and the overall outcome remains poor. Available targeted treatments, based on the precision medicine approach, are currently few.
Objective: To provide an overview of the treatment of epileptic encephalopathies with known genetic determinants, including established treatment, anecdotal reports of specific treatment, and potential tailored precision medicine strategies. Method: Genes known to be associated to epileptic encephalopathy were selected. Genes where the association was uncertain or with no reports of details on treatment, were not included. Although some of the genes included are associated with multiple epilepsy phenotypes or other organ involvement, we have mainly focused on the epileptic encephalopathies and their antiepileptic treatments. Results: Most epileptic encephalopathies show genotypic and phenotypic heterogeneity. The treatment of seizures is difficult in most cases. The available evidence may provide some guidance for treatment: for example, ACTH seems to be effective in controlling infantile spams in a number of genetic epileptic encephalopathies. There are potentially effective tailored precision medicine strategies available for some of the encephalopathies, and therapies with currently unexplained effectiveness in others. Conclusions: Understanding the effect of the mutation is crucial for targeted treatment. There is a broad range of disease mechanisms underlying epileptic encephalopathies, and this makes the application of targeted treatments challenging. However, there is evidence that tailored treatment could significantly improve epilepsy treatment and prognosis.Export Options
About this article
Cite this article as:
Balestrini Simona *, Sisodiya M. Sanjay, Treatment of Epileptic Encephalopathies, Current Pharmaceutical Design 2017; 23 (37) . https://dx.doi.org/10.2174/1381612823666170809115827
DOI https://dx.doi.org/10.2174/1381612823666170809115827 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
Call for Papers in Thematic Issues
"Tuberculosis Prevention, Diagnosis and Drug Discovery"
The Nobel Prize-winning discoveries of Mycobacterium tuberculosis and streptomycin have enabled an appropriate diagnosis and an effective treatment of tuberculosis (TB). Since then, many newer diagnosis methods and drugs have been saving millions of lives. Despite advances in the past, TB is still a leading cause of infectious disease mortality ...read more
Current Pharmaceutical challenges in the treatment and diagnosis of neurological dysfunctions
Neurological dysfunctions (MND, ALS, MS, PD, AD, HD, ALS, Autism, OCD etc..) present significant challenges in both diagnosis and treatment, often necessitating innovative approaches and therapeutic interventions. This thematic issue aims to explore the current pharmaceutical landscape surrounding neurological disorders, shedding light on the challenges faced by researchers, clinicians, and ...read more
Emerging and re-emerging diseases
Faced with a possible endemic situation of COVID-19, the world has experienced two important phenomena, the emergence of new infectious diseases and/or the resurgence of previously eradicated infectious diseases. Furthermore, the geographic distribution of such diseases has also undergone changes. This context, in turn, may have a strong relationship with ...read more
Melanoma and Non-Melanoma Skin Cancer Treatment: Standard of Care and Recent Advances
In this thematic issue, we aim to provide a standard of care of the diagnosis and treatment of melanoma and non-melanoma skin cancer. The editor will invite authors from different countries who will write review articles of melanoma and non-melanoma skin cancers. The Diagnosis, Staging, Surgical Treatment, Non-Surgical Treatment all ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Editorial (Thematic Issue: Polypharmacology in Drug Discovery)
Current Pharmaceutical Design Recent Progress in Biological Activities of Indole and Indole Alkaloids
Mini-Reviews in Medicinal Chemistry Neuroprotective Effects of Low-dose Lithium in Individuals at Ultra-high Risk for Psychosis. A Longitudinal MRI/MRS Study
Current Pharmaceutical Design Synthesis and Pharmacological Screening of Novel 1,3-Disubstituted 5-Pyrazolones as Anticonvulsant Agents
Current Bioactive Compounds Identification of Molecular Targets Associated with Ethanol Toxicity and Implications in Drug Development
Current Pharmaceutical Design Nanoparticle- and Liposome-carried Drugs: New Strategies for Active Targeting and Drug Delivery Across Blood-brain Barrier
Current Drug Metabolism Group I Metabotropic Receptor Neuroprotection Requires Akt and Its Substrates that Govern FOXO3a, Bim, and β-Catenin During Oxidative Stress
Current Neurovascular Research Concurrent Use of Antiretrovirals and Anticonvulsants in Human Immunodeficiency Virus (HIV) Seropositive Patients
Current Pharmaceutical Design Synthesis and Evaluation of Anticonvulsant Activities of Triazole- Incorporated Benzothiazoles
Letters in Drug Design & Discovery O-(2-[18F]-Fluoroethyl)-L-Tyrosine (FET) in Neurooncology: A Review of Experimental Results
Current Radiopharmaceuticals SkQ-1 Regulates Xanthine Oxidase Activity in the Settings of Epilepsic Seizures in Rats
Neuroscience and Biomedical Engineering (Discontinued) Effects on the Post-translational Modification of H3K4Me3, H3K9ac, H3K9Me2, H3K27Me3, and H3K36Me2 Levels in Cerebral Cortex, Hypothalamus and Pons of Rats after a Systemic Administration of Cannabidiol: A Preliminary Study
Central Nervous System Agents in Medicinal Chemistry Molecular Mechanism of a Specific NLRP3 Inhibitor to Alleviate Seizure Severity Induced by Pentylenetetrazole
Current Molecular Pharmacology Patent Selections:
Recent Patents on Anti-Cancer Drug Discovery Voltage-Gated Sodium Channels in Neurological Disorders
CNS & Neurological Disorders - Drug Targets Clinical and Electroencephalographic Assessment of Cefepime During Treatment of Nosocomial Infections in Neurological Patients
Central Nervous System Agents in Medicinal Chemistry Astrocytic Target Mechanisms in Epilepsy
Current Medicinal Chemistry Targeting Ionotropic Glutamate Receptors in the Treatment of Epilepsy
Current Neuropharmacology Role of Unani Medicines in Cancer Control and Management
Current Drug Therapy Allosteric Modulators of GABAB Receptors: Mechanism of Action and Therapeutic Perspective
Current Neuropharmacology