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 syndrom...

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Vydáno v:Dev Med Child Neurol
Hlavní autoři: Cross, J Helen, Arora, Ruchi, Heckemann, Rolf A, Gunny, Roxana, Chong, Kling, Carr, Lucinda, Baldeweg, Torsten, Differ, Ann-Marie, Lench, Nicholas, Varadkar, Sophie, Sirimanna, Tony, Wassmer, Evangeline, Hulton, Sally A, Ognjanovic, Milos, Ramesh, Venkateswaran, Feather, Sally, Kleta, Robert, Hammers, Alexander, Bockenhauer, Detlef
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2013
Témata:
Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4298033/
https://ncbi.nlm.nih.gov/pubmed/23924083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.12171
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