Article
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.
Neurogenetics - 1 Jan 2015
Keogh Michael J, Daud D, Pyle A, Duff J, Griffin H, He L, Alston C L, Steele H, Taggart S, Basu A P, Taylor R W, Horvath R, Ramesh V, Chinnery Patrick F
Abstract excerpt
Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein...
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