Epilepsy, 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 Europea...

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Detalles Bibliográficos
Autores principales: Papavasiliou, Antigone, Foska, Katerina, Ioannou, John, Nagel, Mato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536383/
https://www.ncbi.nlm.nih.gov/pubmed/28835827
http://dx.doi.org/10.1177/2050313X17723549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5536383/
https://www.ncbi.nlm.nih.gov/pubmed/28835827
http://dx.doi.org/10.1177/2050313X17723549

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