Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations
نویسندگان
چکیده
منابع مشابه
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome
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 ...
متن کاملEpilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report
BACKGROUND Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. CASE REPORT A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual ...
متن کاملGeneration and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy. A Kcnj10 knockout mouse shows postnatal mortality and is therefore not suitable ...
متن کاملKCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Mutations of the KCNJ10 (Kir4.1) K(+) channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome. We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. Kcnj10 and Kcnj16 were found in the basolateral mem...
متن کاملHypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.
OBJECTIVE To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31. METHODS We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evalu...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2009
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa0810276