EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a rena...

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Detalles Bibliográficos
Autores principales: Abdelhadi, Ola, Iancu, Daniela, Stanescu, Horia, Kleta, Robert, Bockenhauer, Detlef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961265/
https://www.ncbi.nlm.nih.gov/pubmed/27500072
http://dx.doi.org/10.1080/21675511.2016.1195043

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961265/
https://www.ncbi.nlm.nih.gov/pubmed/27500072
http://dx.doi.org/10.1080/21675511.2016.1195043

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