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dc.contributor.authorMyers, Kenneth A-
dc.contributor.authorScheffer, Ingrid E-
dc.identifier.citationAnnual review of pharmacology and toxicology 2022; 62: 641-662en
dc.description.abstractEpilepsy is an etiologically heterogeneous condition; however, genetic factors are thought to play a role in most patients. For those with infantile-onset developmental and epileptic encephalopathy (DEE), a genetic diagnosis is now obtained in more than 50% of patients. There is considerable motivation to utilize these molecular diagnostic data to help guide treatment, as children with DEEs often have drug-resistant seizures as well as developmental impairment related to cerebral epileptiform activity. Precision medicine approaches have the potential to dramatically improve the quality of life for these children and their families. At present, treatment can be targeted for patients with diagnoses in many genetic causes of infantile-onset DEE, including genes encoding sodium or potassium channel subunits, tuberous sclerosis, and congenital metabolic diseases. Precision medicine may refer to more intelligent choices of conventional antiseizure medications, repurposed agents previously used for other indications, novel compounds, enzyme replacement, or gene therapy approaches. Expected final online publication date for the Annual Review of Pharmacology and Toxicology, Volume 62 is January 2022. Please see for revised estimates.en
dc.titlePrecision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies.en
dc.typeJournal Articleen
dc.identifier.journaltitleAnnual Review of Pharmacology and Toxicologyen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health and Murdoch Children's Research Institute, Parkville, Victoria 3052, Australiaen
dc.identifier.affiliationEpilepsy Research Centreen
dc.identifier.affiliationDepartment of Paediatrics, Royal Children's Hospital, The University of Melbourne, Parkville, Victoria 3052, Australiaen
dc.identifier.affiliationResearch Institute of the McGill University Health Centre, Division of Child Neurology, Department of Pediatrics, and Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec H4A 3J1, Canadaen
dc.identifier.pubmedid34579535-, Ingrid E
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.cerifentitytypePublications- Research Centre-
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