Article
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Developmental medicine and child neurology - 1 Sept 2013
Cross J Helen, Arora Ruchi, Heckemann Rolf A, Gunny Roxana, Chong Kling, Carr Lucinda, Baldeweg Torsten, Differ Ann-Marie, Lench Nicholas, Varadkar Sophie, Sirimanna Tony, Wassmer Evangeline, Hulton Sally A, Ognjanovic Milos, Ramesh Venkateswaran, Feather Sally, Kleta Robert, Hammers Alexander, Bockenhauer Detlef
Abstract excerpt
AIM: Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene. Here, we provide a detailed characterization of the clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment...
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