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...ed from the main features of the syndrome: Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy<ref>[[EAST syndrome|EAST syndrome - Genetics Home Referenc ...nym for the main features of the syndrome: Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy<ref>[[EAST syndrome|EAST syndrome - Genetics Home Referenc

...me was first described in 2008 and is caused by mutations in the [[AP1S1]] gene. ...amed after the [[Kamouraska]] region in Quebec, Canada, where it was first identified.