Article
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.
Bone - 1 Oct 2017
Rolvien Tim, Butscheidt Sebastian, Jeschke Anke, Neu Axel, Denecke Jonas, Kubisch Christian, Meisler Miriam H, Pueschel Klaus, Barvencik Florian, Yorgan Timur, Oheim Ralf, Schinke Thorsten, Amling Michael
Abstract excerpt
Mutations in the SCN8A gene encoding the neuronal voltage-gated sodium channel Nav1.6 are known to be associated with epileptic encephalopathy type 13. We identified a novel de novo SCN8A mutation (p.Phe360Ala, c.1078_1079delTTinsGC, Exon 9) in a 6-year-old girl with epileptic encephalopathy accompanied by severe juvenile osteoporosis and multiple skeletal fractures, similar to three previous case reports....
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