Articles with "east syndrome" as a keyword



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Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10

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Published in 2019 at "Brain and Development"

DOI: 10.1016/j.braindev.2019.03.009

Abstract: OBJECTIVE EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation… read more here.

Keywords: epilepsy; caused mutation; mutation kcnj10; east syndrome ... See more keywords