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

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 and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases.

Source: Brain and Development - April 1, 2019 Category: Neurology Authors: Ali Mir, Mohammed Chaudhary, Hani Alkhaldi, Rami Alhazmi, Raidah Albaradie, Yousef Housawi Tags: Original article Source Type: research