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<https://discovery.ucl.ac.uk/id/eprint/1536777> <http://purl.org/ontology/bibo/abstract> "PURPOSE:\r\n\r\nThis text provides an overview of how the condition \"infantile spasms\" has evolved in the last 175 years.\r\n\r\nMETHOD:\r\n\r\nKey references are summarised to assimilate this review. Results: Infantile spasms, first described by Dr West in 1841, has undergone extensive investigation to understand the pathogenesis, aetiologies, optimal intervention and most likely prognosis for the affected child. The terminology has recently evolved such that the preferred term for the condition is now “epileptic spasms” in recognition of the fact that cases can present outside infancy. The aetiologies are diverse and can be structural, genetic, metabolic or acquired. Increasing numbers of presumed causative genetic mutations are now being identified. The condition is an epileptic encephalopathy such that without adequate control of the clinical seizures and correction of the abnormal EEG, ongoing neurological damage occurs. In some cases neuroregression is inevitable despite intervention. First-line treatments are either hormonal therapies, adrenocortcotrophic hormone or prednisolone, or vigabatrin. In the sub-group of patients with tuberous sclerosis complex, vigabatrin is the preferred treatment. High dose prednisolone may be a more viable option in resource limited settings. Recent research has suggested that combining hormonal therapies with vigabatrin will result in more patients achieving spasm cessation.\r\n\r\nCONCLUSIONS:\r\n\r\nDespite extensive study, the pathogenic mechanisms remain an area of debate and in need of further exploration. The enigma, however, may be explained as the role of resting state and dysfunctional brain networks are elucidated further."^^<http://www.w3.org/2001/XMLSchema#string> .
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