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- W3025659999 endingPage "107578" @default.
- W3025659999 startingPage "107578" @default.
- W3025659999 abstract "Infantile spasms (IS or epileptic spasms during infancy) were first described by Dr. William James West (aka West syndrome) in his own son in 1841. While rare by definition (occurring in 1 per 3200–3400 live births), IS represent a major social and treatment burden. The etiology of IS varies - there are many (>200) different known pathologies resulting in IS and still in about one third of cases there is no obvious reason. With the advancement of genetic analysis, role of certain genes (such as ARX or CDKL5 and others) in IS appears to be important. Current treatment strategies with incomplete efficacy and serious potential adverse effects include adrenocorticotropin (ACTH), corticosteroids (prednisone, prednisolone) and vigabatrin, more recently also a combination of hormones and vigabatrin. Second line treatments include pyridoxine (vitamin B6) and ketogenic diet. Additional treatment approaches use rapamycin, cannabidiol, valproic acid and other anti-seizure medications. Efficacy of these second line medications is variable but usually inferior to hormonal treatments and vigabatrin. Thus, new and effective models of this devastating condition are required for the search of additional treatment options as well as for better understanding the mechanisms of IS. Currently, eight models of IS are reviewed along with the ideas and mechanisms behind these models, drugs tested using the models and their efficacy and usefulness. Etiological variety of IS is somewhat reflected in the variety of the models. However, it seems that for finding precise personalized approaches, this variety is necessary as there is no “one-size-fits-all” approach possible for both IS in particular and epilepsy in general." @default.
- W3025659999 created "2020-05-21" @default.
- W3025659999 creator A5050395217 @default.
- W3025659999 creator A5072970088 @default.
- W3025659999 date "2020-08-01" @default.
- W3025659999 modified "2023-10-12" @default.
- W3025659999 title "Modeling epileptic spasms during infancy: Are we heading for the treatment yet?" @default.
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