publication . Conference object . Article . Other literature type . 2013

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

J. Helen Cross; Ruchi Arora; Rolf A. Heckemann; Roxana Gunny; Kling Chong; Lucinda Carr; Torsten Baldeweg; Ann-Marie Differ; Nicholas Lench; Sophie Varadkar; ...
Open Access
  • Published: 01 Sep 2013 Journal: Developmental Medicine & Child Neurology (issn: 0012-1622, Copyright policy)
  • Country: United Kingdom
Abstract
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 clinical features of the syndrome to aid patient management with respect to diagnosis, prognostic counselling, and identification of best treatment modalities. METHOD We conducted a retrospective review of the detailed neurological and neuroradiological features of nine children (four females, five males; age range at last examination 6–20y) with genetically proven EAST syndrome. RESULTS All children...
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free text keywords: Original Articles, Pediatrics, Perinatology, and Child Health, Developmental Neuroscience, Clinical Neurology, Dominance (genetics), Hearing loss, medicine.symptom, medicine, EAST syndrome, medicine.disease, KCNJ10, biology.protein, biology, Epilepsy, Tubulopathy, Pathology, medicine.medical_specialty, business.industry, business, Cerebellar ataxia, Ataxia, Pediatrics
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