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Novel mutation in the KCNJ10 gene in three siblings with seizures,ataxia and no electrolyte abnormalities |
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| Authors: | Muna A. Al Dhaibani Ayman W. El-Hattab Kathryn B. Holroyd Jennifer Orthmann-Murphy Valerie A. Larson Khurram A. Siddiqui |
| Affiliation: | 1. Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates;2. Division of Clinical Genetics and Metabolic Disorders Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates;3. Brigham and Women’s Hospital, Boston, MA, USA;4. Johns Hopkins Hospital and Health System, Baltimore, MD, USA;5. Al Ain Hospital, Al Ain, United Arab Emirates |
| Abstract: | We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed. |
| Keywords: | KCNJ10 EAST syndrome Kir4.1 SeSAME syndrome |