Article
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
Developmental medicine and child neurology - 1 Mar 2010
Absoud Michael, Parr Jeremy R, Halliday Dorothy, Pretorius Pieter, Zaiwalla Zenobia, Jayawant Sandeep
Abstract excerpt
ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially...
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