Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50847
Abstract: We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the encoded KNa1.1… read more here.
Keywords: kcnt1 variant; functional consequences; status dystonicus;
Status dystonicus: a diagnosis delayed
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DOI: 10.1136/bcr-2018-226531
Abstract: Status dystonicus, also known as the dystonic storm or dystonic crisis, is rare but may prove fatal due to respiratory and bulbar complications. In adults, the condition is rare and possibly under-reported. The lack of… read more here.
Keywords: status dystonicus; diagnosis delayed; status; dystonicus diagnosis ... See more keywords
Status Dystonicus in Children: A Cross-Sectional Study and Review of Literature
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DOI: 10.1177/08830738221081593
Abstract: Background: Status dystonicus is a life-threatening, underrecognized movement disorder emergency. We aimed to ascertain the etiology, clinical presentation, complications, and outcomes of status dystonicus in children and reviewed the literature for similar studies. Methods: Records… read more here.
Keywords: dystonicus children; status; status dystonicus; literature ... See more keywords
Status dystonicus: Diagnosis and management of a rare and challenging entity.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric rehabilitation medicine"
DOI: 10.3233/prm-170510
Abstract: We report the case of a six-year-old girl with Moyamoya disease who presented with bilateral internal carotid artery malignant infarct following encephaloduroarteriosynangiosis (EDAS). During her neurorehabilitation, she developed gradually worsening dystonic spasms with opisthotonic posturing,… read more here.
Keywords: status; status dystonicus; etiology; diagnosis management ... See more keywords