Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.

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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;

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 cli... View more
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