Article
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Proceedings of the National Academy of Sciences of the United States of America - 7 Apr 2009
Scholl Ute I, Choi Murim, Liu Tiewen, Ramaekers Vincent T, Häusler Martin G, Grimmer Joanne, Tobe Sheldon W, Farhi Anita, Nelson-Williams Carol, Lifton Richard P
Abstract excerpt
We describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). By analysis of linkage we localize the putative causative gene to a 2.5-Mb segment of chromosome 1q23.2-23.3. Direct DNA sequencing of KCNJ10, which encodes an inwardly rectifying...
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