Abstract
The clinical features of severe myoclonic epilepsy of infancy (SMEI) resemble those of mitochondrial diseases, although most patients have the sodium channel (SCN1A) mutation. We describe a patient with SMEI and enlarged muscle mitochondria associated with mutations in mitochondrial polymerase gamma 1 (POLG1) and SCN1A. Due to increased risk of valproate-induced liver failure in patients with POLG1 mutations, we recommend POLG1 gene analysis for SMEI patients before valproate administration.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA / genetics
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DNA, Mitochondrial / genetics
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Humans
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Infant
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Male
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Microscopy, Electron, Transmission
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Mitochondria / pathology
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Mitochondria / ultrastructure
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Mitochondrial Diseases / complications
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Mitochondrial Diseases / genetics*
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Mitochondrial Diseases / pathology
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Muscle, Skeletal / pathology
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Muscle, Skeletal / ultrastructure
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Mutation / physiology*
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Myoclonic Epilepsy, Juvenile / complications
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Myoclonic Epilepsy, Juvenile / genetics*
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Myoclonic Epilepsy, Juvenile / pathology
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Phenotype
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Polymorphism, Restriction Fragment Length
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Reverse Transcriptase Polymerase Chain Reaction