Abstract
Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein.
MeSH terms
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Diseases in Twins / genetics
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Epilepsies, Myoclonic / genetics*
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Epilepsies, Myoclonic / physiopathology
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Epilepsy, Generalized / genetics
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Epilepsy, Generalized / physiopathology
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Female
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Humans
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Infant
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Male
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Mutation / genetics*
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NAV1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins / chemistry
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Nerve Tissue Proteins / genetics*
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Pedigree
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Sodium Channels / chemistry
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Sodium Channels / genetics*
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Twins, Monozygotic / genetics
Substances
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NAV1.1 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins
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SCN1A protein, human
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Sodium Channels