Abstract
We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Ataxia / complications*
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Ataxia / genetics
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Ataxia / pathology
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DNA Mutational Analysis
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DNA, Mitochondrial / genetics
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Family Health
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Female
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Humans
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Intellectual Disability / complications*
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Magnetic Resonance Imaging / methods
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Myoclonic Epilepsies, Progressive / complications*
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Myoclonic Epilepsies, Progressive / genetics
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Myoclonic Epilepsies, Progressive / pathology
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Point Mutation