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
-
Some Highlights on Epileptic EEG Processing
Recent Patents on Biomedical Engineering (Discontinued) Neuropsychiatric Involvement in Systemic Lupus Erythematosus:Current Therapeutic Approach
Current Pharmaceutical Design Pharmacological Targeting in Inherited Arrhythmia Syndromes
Current Medicinal Chemistry Developmental Expression and Dysregulation of miR-146a and miR-155 in Down's Syndrome and Mouse Models of Down's Syndrome and Alzheimer's Disease
Current Alzheimer Research Conantokins: Peptide Antagonists of NMDA Receptors
Current Medicinal Chemistry Computational Study and Synthesis of a New Class of Anticonvulsants with 6 Hz Psychomotor Seizure Test Activity: 2-(1,3-benzodioxol-5-yloxy)- N'-[substituted]-acetohydrazides
Medicinal Chemistry The Role of Oxazolidine Derivatives in the Treatment of Infectious and Chronic Diseases
Current Bioactive Compounds Synthesis and Biological Evaluation of Amino Acid Based Mutual Amide Prodrugs of Phenytoin as Anticonvulsant Agents
Central Nervous System Agents in Medicinal Chemistry Sugars that Glow in the Dark: Fluorescent Tagged Glucose Bioprobes and their Facilitation of the Drug Discovery Process
Current Medicinal Chemistry Mexiletine Metabolites: A Review
Current Medicinal Chemistry Interleukin-1β Plays a Role in the Activation of Peripheral Leukocytes after Blood-Brain Barrier Rupture in the Course of Subarachnoid Hemorrhage
Current Neurovascular Research Effect of Neuroinflammation on ABC Transporters: Possible Contribution to Refractory Epilepsy
CNS & Neurological Disorders - Drug Targets Nonconvulsive (Dialeptic) Status Epilepticus in Children
Current Pediatric Reviews Combating Mosquito-Borne Lymphatic Filariasis with Genomics Technologies: Enabling Novel Drug Discovery for Neglected Tropical Diseases
Current Pharmacogenomics and Personalized Medicine Phytochemical Screening, In vivo Anthelmintic and Anticonvulsant Activity of Cleome viscosa Linn Seeds Extract
The Natural Products Journal Synthesis and Evaluation of the Anticonvulsant Activities of New 5-substitued-[1,2,4]triazolo[4,3-a]quinoxalin-4(5H)-one Derivatives
Letters in Drug Design & Discovery Biodistribution Processes as Underestimated Confounders in Translational Stroke Research
Current Medicinal Chemistry Identification of Novel NaV1.7 Antagonists Using High Throughput Screening Platforms
Combinatorial Chemistry & High Throughput Screening Systematic Comparison of the Performance of Different 2D and 3D Ligand-Based Virtual Screening Methodologies to Discover Anticonvulsant Drugs
Combinatorial Chemistry & High Throughput Screening Viral M2 Ion Channel Protein: A Promising Target for Anti-influenza Drug Discovery
Mini-Reviews in Medicinal Chemistry