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A Child With Friedreich's Ataxia and EpilepsyDepartment of Neurology Division of Pediatric Neurology, mgolomb{at}iupui.edu
Department of Radiology Division of Pediatric Neuroradiology
Department of Medical and Molecular Genetics Riley Hospital for Children
Department of Neurology Division of Pediatric Neurology Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis, Indiana Epilepsy in Friedreich's ataxia is rare. We describe a 9-year-old boy with Friedreich's ataxia who had onset of symptoms in the second year of life and developed a generalized epilepsy at age 5 years. On cerebral magnetic resonance imaging, he has a subependymal gray-matter heterotopia. We suggest that his gray-matter heterotopia might be related to his diagnosis of Friedreich's ataxia and that his early onset of symptoms might be related to the length of his guanine - adenine - Adenine (GAA) triplet repeat expansion. ( J Child Neurol 2005;20:248250).
Journal of Child Neurology, Vol. 20, No. 3,
248-250 (2005) |
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