Article
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
Epilepsia - 1 Sept 2014
Farhan Sali M K, Murphy Lisa M, Robinson John F, Wang Jian, Siu Victoria M, Rupar C Anthony, Prasad Asuri N, Hegele Robert A
Abstract excerpt
Epilepsy affects approximately 1% of the world's population. Genetic factors and acquired etiologies, as well as a range of environmental triggers, together contribute to epileptogenesis. We have identified a family with three daughters affected with progressive myoclonus epilepsy with ataxia. Clinical details of the onset and progression of the neurologic presentation, epileptic seizures, and the natural history...
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