Article
Menkes disease and infantile epilepsy.
Brain & development - 1 Nov 2011
Prasad Asuri N, Levin Simon, Rupar C Anthony, Prasad Chitra
Abstract excerpt
OBJECTIVES: Menkes disease, an X linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Epilepsy is a major clinical feature of this disorder. We describe the clinical presentation, evolution of epilepsy and explore the biological underpinnings of epileptogenesis in Menkes disease. METHODS: Longitudinal case study illustrating the...
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