Abstract
In this issue of the journal, Gorman and Colleagues add to the steadily growing catalogue of reports of status dystonicus (SD) in childhood. 1 Gorman K.M. Cary H. Gaffney L. et al. Status dystonicus due to missense variant in ARX: diagnosis and management. Eur J Paediatr Neurol EJPN Offic J Eur Paediatr Neurol Soc. 2018; ([Epub ahead of print]) Abstract Full Text Full Text PDF Scopus (5) Google Scholar Their case is notable, describing as it does a child with a missense variant in the aristaless domain of the Aristaless-related homeobox gene (ARX), a domain of the gene not previously associated with SD. The case also describes all of the classical features SD that the clinical community have come to recognise, including the initial diagnostic confusion with status epilepticus (SE), and a complex and prolonged course of pharmacological management.
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